PCDHA12[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2222670	NM_018903.4(PCDHA12):c.38G>T (p.Arg13Leu)	PCDHA7, PCDHA8 +12 more (R13L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2272993	NM_018903.4(PCDHA12):c.106T>C (p.Tyr36His)	PCDHA@, PCDHA2 +12 more (Y36H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238712	NM_018903.4(PCDHA12):c.107A>C (p.Tyr36Ser)	PCDHA12, PCDHA11 +12 more (Y36S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623726	NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser)	LOC112267934, PCDHA1 +12 more (A49S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280748	NM_018903.4(PCDHA12):c.179T>C (p.Val60Ala)	PCDHA6, LOC112267934 +12 more (V60A)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534413	NM_018903.4(PCDHA12):c.196G>A (p.Val66Met)	LOC112267934, PCDHA1 +12 more (V66M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534414	NM_018903.4(PCDHA12):c.208A>G (p.Arg70Gly)	LOC112267934, PCDHA1 +12 more (R70G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534415	NM_018903.4(PCDHA12):c.210A>C (p.Arg70Ser)	PCDHA1, PCDHA10 +12 more (R70S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534416	NM_018903.4(PCDHA12):c.211C>G (p.His71Asp)	LOC112267934, PCDHA1 +12 more (H71D)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534417	NM_018903.4(PCDHA12):c.212A>G (p.His71Arg)	LOC112267934, PCDHA1 +12 more (H71R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2456266	NM_018903.4(PCDHA12):c.263C>G (p.Ser88Cys)	LOC112267934, PCDHA1 +12 more (S88C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2316044	NM_018903.4(PCDHA12):c.269T>C (p.Ile90Thr)	PCDHA2, PCDHA10 +12 more (I90T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3024694	NM_018903.4(PCDHA12):c.299C>T (p.Ala100Val)	LOC112267934, PCDHA1 +12 more (A100V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3024695	NM_018903.4(PCDHA12):c.309T>C (p.Ser103=)	LOC112267934, PCDHA1 +12 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2544413	NM_018903.4(PCDHA12):c.344A>C (p.Gln115Pro)	PCDHA4, PCDHA7 +12 more (Q115P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310403	NM_018903.4(PCDHA12):c.345G>C (p.Gln115His)	PCDHA12, PCDHA2 +12 more (Q115H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2351170	NM_018903.4(PCDHA12):c.361G>T (p.Val121Leu)	PCDHA@, PCDHA8 +12 more (V121L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275088	NM_018903.4(PCDHA12):c.361G>A (p.Val121Met)	PCDHA7, PCDHA5 +12 more (V121M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254879	NM_018903.4(PCDHA12):c.418G>A (p.Val140Ile)	PCDHA2, PCDHA1 +12 more (V140I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238663	NM_018903.4(PCDHA12):c.436G>A (p.Ala146Thr)	PCDHA12, PCDHA10 +11 more (A146T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256229	NM_018903.4(PCDHA12):c.460C>A (p.Leu154Ile)	PCDHA7, PCDHA6 +11 more (L154I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245847	NM_018903.4(PCDHA12):c.509A>G (p.Tyr170Cys)	PCDHA8, PCDHA11 +11 more (Y170C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277863	NM_018903.4(PCDHA12):c.545T>C (p.Ile182Thr)	PCDHA6, PCDHA7 +11 more (I182T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1205937	NM_018903.4(PCDHA12):c.703G>A (p.Val235Met)	PCDHA1, PCDHA10 +11 more (V235M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655794	NM_018903.4(PCDHA12):c.768A>G (p.Gln256=)	PCDHA1, PCDHA10 +11 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2234151	NM_018903.4(PCDHA12):c.805C>G (p.Pro269Ala)	PCDHA9, PCDHA4 +11 more (P269A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255667	NM_018903.4(PCDHA12):c.821A>G (p.Asn274Ser)	PCDHA11, PCDHA7 +11 more (N274S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334219	NM_018903.4(PCDHA12):c.913T>C (p.Tyr305His)	PCDHA3, PCDHA11 +11 more (Y305H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369760	NM_018903.4(PCDHA12):c.920A>C (p.Glu307Ala)	PCDHA2, PCDHA7 +11 more (E307A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361206	NM_018903.4(PCDHA12):c.1129C>A (p.Arg377Ser)	PCDHA3, PCDHA1 +11 more (R377S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600136	NM_018903.4(PCDHA12):c.1193T>C (p.Val398Ala)	PCDHA1, PCDHA10 +11 more (V398A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234150	NM_018903.4(PCDHA12):c.1230C>A (p.Asp410Glu)	PCDHA6, PCDHA4 +11 more (D410E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386686	NM_018903.4(PCDHA12):c.1250G>A (p.Ser417Asn)	PCDHA8, PCDHA7 +11 more (S417N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404030	NM_018903.4(PCDHA12):c.1319G>C (p.Arg440Thr)	PCDHA5, PCDHA1 +11 more (R440T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560745	NM_018903.4(PCDHA12):c.1372C>A (p.Pro458Thr)	PCDHA12, PCDHA2 +11 more (P458T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534410	NM_018903.4(PCDHA12):c.1466T>G (p.Leu489Arg)	PCDHA8, PCDHA9 +11 more (L489R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344174	NM_018903.4(PCDHA12):c.1469T>C (p.Val490Ala)	PCDHA10, PCDHA8 +11 more (V490A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534411	NM_018903.4(PCDHA12):c.1471T>G (p.Ser491Ala)	PCDHA3, PCDHA4 +11 more (S491A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352465	NM_018903.4(PCDHA12):c.1490G>T (p.Arg497Leu)	PCDHA6, PCDHA5 +11 more (R497L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552234	NM_018903.4(PCDHA12):c.1495G>T (p.Val499Leu)	PCDHA@, PCDHA1 +11 more (V499L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552235	NM_018903.4(PCDHA12):c.1503G>C (p.Glu501Asp)	PCDHA1, PCDHA10 +11 more (E501D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534412	NM_018903.4(PCDHA12):c.1505A>G (p.His502Arg)	PCDHA1, PCDHA10 +11 more (H502R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2335297	NM_018903.4(PCDHA12):c.1522G>A (p.Val508Met)	PCDHA11, PCDHA6 +11 more (V508M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381149	NM_018903.4(PCDHA12):c.1544G>T (p.Gly515Val)	PCDHA8, PCDHA12 +11 more (G515V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569445	NM_018903.4(PCDHA12):c.1546A>C (p.Lys516Gln)	PCDHA1, PCDHA10 +11 more (K516Q)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569446	NM_018903.4(PCDHA12):c.1553A>T (p.Tyr518Phe)	PCDHA1, PCDHA10 +11 more (Y518F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346085	NM_018903.4(PCDHA12):c.1555G>T (p.Ala519Ser)	PCDHA7, PCDHA2 +11 more (A519S)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261995	NM_018903.4(PCDHA12):c.1565C>T (p.Pro522Leu)	PCDHA3, PCDHA6 +11 more (P522L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569447	NM_018903.4(PCDHA12):c.1574A>G (p.His525Arg)	PCDHA1, PCDHA10 +11 more (H525R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569448	NM_018903.4(PCDHA12):c.1601A>G (p.Gln534Arg)	PCDHA1, PCDHA10 +11 more (Q534R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569449	NM_018903.4(PCDHA12):c.1625T>C (p.Val542Ala)	PCDHA1, PCDHA10 +11 more (V542A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357711	NM_018903.4(PCDHA12):c.1636G>A (p.Gly546Ser)	PCDHA3, PCDHA12 +11 more (G546S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338399	NM_018903.4(PCDHA12):c.1637G>A (p.Gly546Asp)	PCDHA5, PCDHA@ +11 more (G546D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613440	NM_018903.4(PCDHA12):c.1664T>G (p.Val555Gly)	PCDHA7, PCDHA@ +11 more (V555G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528550	NM_018903.4(PCDHA12):c.1677C>G (p.Asn559Lys)	PCDHA1, PCDHA10 +11 more (N559K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379837	NM_018903.4(PCDHA12):c.1688C>T (p.Pro563Leu)	PCDHA12, PCDHA10 +11 more (P563L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247702	NM_018903.4(PCDHA12):c.1688C>A (p.Pro563Gln)	PCDHA9, PCDHA2 +11 more (P563Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600842	NM_018903.4(PCDHA12):c.1726G>A (p.Ala576Thr)	PCDHA5, PCDHA10 +11 more (A576T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457689	NM_018903.4(PCDHA12):c.1750T>C (p.Ser584Pro)	PCDHA10, PCDHA6 +11 more (S584P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385432	NM_018903.4(PCDHA12):c.1795G>A (p.Ala599Thr)	PCDHA2, PCDHA7 +11 more (A599T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655795	NM_018903.4(PCDHA12):c.1813G>T (p.Ala605Ser)	PCDHA6, PCDHA7 +11 more (A605S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2480641	NM_018903.4(PCDHA12):c.1853C>T (p.Ala618Val)	PCDHA10, PCDHA11 +11 more (A618V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368586	NM_018903.4(PCDHA12):c.1895G>C (p.Ser632Thr)	PCDHA9, PCDHA4 +11 more (S632T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409312	NM_018903.4(PCDHA12):c.1897A>C (p.Thr633Pro)	PCDHA1, PCDHA9 +11 more (T633P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523904	NM_018903.4(PCDHA12):c.1973C>T (p.Ala658Val)	PCDHA8, PCDHA9 +11 more (A658V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292094	NM_018903.4(PCDHA12):c.2093T>C (p.Val698Ala)	PCDHA@, PCDHA10 +11 more (V698A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292095	NM_018903.4(PCDHA12):c.2111T>C (p.Ile704Thr)	PCDHA4, PCDHA@ +11 more (I704T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240783	NM_018903.4(PCDHA12):c.2242T>G (p.Trp748Gly)	PCDHA6, PCDHA3 +11 more (W748G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302607	NM_018904.3(PCDHA13):c.4C>G (p.Leu2Val)	PCDHA13, PCDHA5 +12 more (L2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2394329	NM_018904.3(PCDHA13):c.14G>T (p.Trp5Leu)	PCDHA9, PCDHA11 +12 more (W5L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516470	NM_018904.3(PCDHA13):c.128C>A (p.Thr43Asn)	PCDHA1, PCDHA10 +12 more (T43N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610865	NM_018904.3(PCDHA13):c.140G>C (p.Arg47Pro)	PCDHA6, PCDHA7 +12 more (R47P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483045	NM_018904.3(PCDHA13):c.151G>A (p.Asp51Asn)	PCDHA1, PCDHA10 +12 more (D51N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620600	NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln)	PCDHA1, PCDHA10 +12 more (P61Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610172	NM_018904.3(PCDHA13):c.286T>G (p.Cys96Gly)	PCDHA1, PCDHA10 +12 more (C96G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655796	NM_018904.3(PCDHA13):c.292C>A (p.Arg98=)	PCDHA2, PCDHA1 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2235269	NM_018904.3(PCDHA13):c.320A>G (p.Glu107Gly)	PCDHA@, PCDHA9 +12 more (E107G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210487	NM_018904.3(PCDHA13):c.712A>T (p.Asn238Tyr)	PCDHA1, PCDHA11 +12 more (N238Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607186	NM_018904.3(PCDHA13):c.719C>T (p.Pro240Leu)	PCDHA4, PCDHA5 +12 more (P240L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325297	NM_018904.3(PCDHA13):c.757G>A (p.Glu253Lys)	PCDHA5, PCDHA10 +12 more (E253K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233551	NM_018904.3(PCDHA13):c.762C>G (p.Asn254Lys)	PCDHA9, PCDHA@ +12 more (N254K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546881	NM_018904.3(PCDHA13):c.804T>A (p.Asp268Glu)	PCDHA10, PCDHA11 +12 more (D268E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621776	NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser)	PCDHA1, PCDHA10 +12 more (R283S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612393	NM_018904.3(PCDHA13):c.850C>G (p.Pro284Ala)	PCDHA@, PCDHA1 +12 more (P284A)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325549	NM_018904.3(PCDHA13):c.1000T>C (p.Cys334Arg)	PCDHA10, PCDHA13 +12 more (C334R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609940	NM_018904.3(PCDHA13):c.1010T>C (p.Leu337Ser)	PCDHA1, PCDHA10 +12 more (L337S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488209	NM_018904.3(PCDHA13):c.1189C>A (p.Leu397Met)	PCDHA6, PCDHA8 +12 more (L397M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488210	NM_018904.3(PCDHA13):c.1190T>G (p.Leu397Arg)	PCDHA12, PCDHA1 +12 more (L397R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569450	NM_018904.3(PCDHA13):c.1231A>G (p.Ser411Gly)	PCDHA1, PCDHA10 +12 more (S411G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569451	NM_018904.3(PCDHA13):c.1234G>A (p.Ala412Thr)	PCDHA1, PCDHA10 +12 more (A412T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569453	NM_018904.3(PCDHA13):c.1255T>G (p.Ser419Ala)	PCDHA1, PCDHA10 +12 more (S419A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2569454	NM_018904.3(PCDHA13):c.1277C>G (p.Thr426Ser)	PCDHA1, PCDHA10 +12 more (T426S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292097	NM_018904.3(PCDHA13):c.1292G>A (p.Gly431Asp)	PCDHA11, PCDHA8 +12 more (G431D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569455	NM_018904.3(PCDHA13):c.1318A>C (p.Ser440Arg)	PCDHA1, PCDHA10 +12 more (S440R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569456	NM_018904.3(PCDHA13):c.1331G>A (p.Gly444Glu)	PCDHA1, PCDHA10 +12 more (G444E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2524848	NM_018904.3(PCDHA13):c.1337C>G (p.Ala446Gly)	PCDHA1, PCDHA10 +12 more (A446G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3