ClinVar for Gene (Select 92211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141355	NM_033100.4(CDHR1):c.1954T>A (p.Trp652Arg)	CDHR1 (W652R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141354	NM_033100.4(CDHR1):c.1766C>A (p.Thr589Asn)	CDHR1 (T589N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141352	NM_033100.4(CDHR1):c.1105G>A (p.Glu369Lys)	CDHR1 (E369K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141351	NM_033100.4(CDHR1):c.108C>A (p.Asn36Lys)	CDHR1 (N36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052128	NM_001171971.3(CDHR1):c.2163C>T (p.Cys721=)	CDHR1	Single nucleotide variant (synonymous variant)	CDHR1-related disorder	GLikely benign
Select item 3052005	NM_001171971.3(CDHR1):c.2066A>G (p.Asn689Ser)	CDHR1 (N689S)	Single nucleotide variant (missense variant)	CDHR1-related disorder	GLikely benign
Select item 3026107	NM_033100.4(CDHR1):c.1291T>C (p.Phe431Leu)	CDHR1 (F431L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022496	NM_033100.4(CDHR1):c.1783-12C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009544	NM_033100.4(CDHR1):c.152-17A>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008414	NM_033100.4(CDHR1):c.1167+20G>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001684	NM_033100.4(CDHR1):c.1631A>C (p.Tyr544Ser)	CDHR1 (Y544S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000151	NM_033100.4(CDHR1):c.2118C>G (p.Ala706=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998280	NM_033100.4(CDHR1):c.152-16C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997586	NM_033100.4(CDHR1):c.1197G>C (p.Leu399=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995787	NM_033100.4(CDHR1):c.108C>T (p.Asn36=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994631	NM_033100.4(CDHR1):c.1321-15T>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992309	NM_033100.4(CDHR1):c.151+15C>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989916	NM_033100.4(CDHR1):c.1168-15C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987440	NM_033100.4(CDHR1):c.1259C>T (p.Thr420Ile)	CDHR1 (T420I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980491	NM_033100.4(CDHR1):c.526-13C>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975792	NM_033100.4(CDHR1):c.525+19G>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973615	NM_033100.4(CDHR1):c.526-18G>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969079	NM_033100.4(CDHR1):c.298-16T>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968755	NM_033100.4(CDHR1):c.1321-9C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959017	NM_033100.4(CDHR1):c.1782+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2907401	NM_033100.4(CDHR1):c.1570_1592del (p.Ser524fs)	CDHR1 (S524fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2907400	NM_033100.4(CDHR1):c.438+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2891591	NM_033100.4(CDHR1):c.144C>T (p.Thr48=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879809	NM_033100.4(CDHR1):c.673G>C (p.Val225Leu)	CDHR1 (V225L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874023	NM_033100.4(CDHR1):c.348+14C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862196	NM_033100.4(CDHR1):c.2041-1G>C	CDHR1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2832334	NM_033100.4(CDHR1):c.963+15G>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826153	NM_033100.4(CDHR1):c.55+16G>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823236	NM_033100.4(CDHR1):c.348+17G>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822231	NM_033100.4(CDHR1):c.516del (p.Phe173fs)	CDHR1 (F173fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2821048	NM_033100.4(CDHR1):c.2071_2072delinsTA (p.Leu691Ter)	CDHR1 (L691*)	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 2819923	NM_033100.4(CDHR1):c.640-18C>G	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817251	NM_033100.4(CDHR1):c.1275C>T (p.Asn425=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814591	NM_033100.4(CDHR1):c.2040+15A>G	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810090	NM_033100.4(CDHR1):c.1721C>T (p.Pro574Leu)	CDHR1 (P574L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801064	NM_033100.4(CDHR1):c.862+16T>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800636	NM_033100.4(CDHR1):c.2244C>G (p.Pro748=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798196	NM_033100.4(CDHR1):c.438+10del	CDHR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2797860	NM_033100.4(CDHR1):c.55+20C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796136	NM_033100.4(CDHR1):c.298A>G (p.Arg100Gly)	CDHR1 (R100G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796135	NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)	CDHR1 (W6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2796018	NM_033100.4(CDHR1):c.2130C>T (p.Ala710=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785738	NM_033100.4(CDHR1):c.863-18G>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782332	NM_033100.4(CDHR1):c.639+3A>G	CDHR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2780683	NM_033100.4(CDHR1):c.876C>G (p.Ala292=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770837	NM_033100.4(CDHR1):c.2217G>A (p.Val739=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766764	NM_033100.4(CDHR1):c.297+11G>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765354	NM_033100.4(CDHR1):c.1167+20G>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754324	NM_033100.4(CDHR1):c.862+1G>T	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2739246	NM_033100.4(CDHR1):c.1696dup (p.Leu566fs)	CDHR1 (L566fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2706900	NM_033100.4(CDHR1):c.862+20G>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699135	NM_033100.4(CDHR1):c.713del (p.Asp238fs)	CDHR1 (D238fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2661958	NM_033100.4(CDHR1):c.950_958del (p.Glu317_His319del)	CDHR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2607214	NM_033100.4(CDHR1):c.1378A>G (p.Ile460Val)	CDHR1 (I460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597383	NM_033100.4(CDHR1):c.257C>T (p.Thr86Ile)	CDHR1 (T86I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2545349	NM_033100.4(CDHR1):c.818G>C (p.Gly273Ala)	CDHR1 (G273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446412	NM_033100.4(CDHR1):c.2040+5G>T	CDHR1	Single nucleotide variant (intron variant)	Macular dystrophy, retinal, 5	GPathogenic
Select item 2446410	NM_033100.4(CDHR1):c.1168-1G>A	CDHR1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 65	GPathogenic
Select item 2446409	NM_033100.4(CDHR1):c.1311_1316del (p.Leu437_Thr438del)	CDHR1	Deletion (inframe_deletion)	Retinitis pigmentosa 65	GPathogenic
Select item 2427120	NC_000010.10:g.(?_85960337)_(85974377_?)dup	CDHR1	Duplication	not provided	GUncertain significance
Select item 2427119	NC_000010.10:g.(?_85954517)_(86018395_?)dup	CDHR1, LRIT1 +2 more	Duplication	not provided	GUncertain significance
Select item 2427118	NC_000010.10:g.(?_85954517)_(85957612_?)del	CDHR1	Deletion	not provided	GPathogenic
Select item 2427117	NC_000010.10:g.(?_85954517)_(85955365_?)del	CDHR1	Deletion	not provided	GPathogenic
Select item 2417659	NM_033100.4(CDHR1):c.2442C>T (p.Val814=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416702	NM_033100.4(CDHR1):c.540A>G (p.Pro180=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371629	NM_033100.4(CDHR1):c.253C>G (p.Pro85Ala)	CDHR1 (P85A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338032	NM_033100.4(CDHR1):c.2416G>T (p.Ala806Ser)	CDHR1 (A806S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335337	NM_033100.4(CDHR1):c.2375C>T (p.Pro792Leu)	CDHR1 (P792L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2313685	NM_033100.4(CDHR1):c.2156T>C (p.Ile719Thr)	CDHR1 (I719T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309837	NM_033100.4(CDHR1):c.1123G>C (p.Glu375Gln)	CDHR1 (E375Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292155	NM_033100.4(CDHR1):c.254C>T (p.Pro85Leu)	CDHR1 (P85L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2290698	NM_033100.4(CDHR1):c.401G>C (p.Arg134Thr)	CDHR1 (R134T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267671	NM_033100.4(CDHR1):c.2183A>G (p.Lys728Arg)	CDHR1 (K728R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255120	NM_001171971.3(CDHR1):c.2210T>C (p.Val737Ala)	CDHR1 (V737A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191948	NM_033100.4(CDHR1):c.1620C>T (p.Ala540=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189453	NM_033100.4(CDHR1):c.1397A>G (p.Asn466Ser)	CDHR1 (N466S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188768	NM_033100.4(CDHR1):c.2049C>T (p.Ser683=)	CDHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186224	NM_033100.4(CDHR1):c.349-10C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184456	NM_033100.4(CDHR1):c.611G>A (p.Arg204Gln)	CDHR1 (R204Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176772	NM_033100.4(CDHR1):c.1437C>T (p.Ala479=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175391	NM_033100.4(CDHR1):c.106A>G (p.Asn36Asp)	CDHR1 (N36D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2158125	NM_033100.4(CDHR1):c.640G>C (p.Asp214His)	CDHR1 (D214H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139475	NM_033100.4(CDHR1):c.667G>A (p.Asp223Asn)	CDHR1 (D223N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136903	NM_033100.4(CDHR1):c.2087_2090del (p.Asp696fs)	CDHR1 (D696fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2136901	NM_033100.4(CDHR1):c.1202G>C (p.Gly401Ala)	CDHR1 (G401A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136899	NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)	CDHR1 (E99G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2133154	NM_033100.4(CDHR1):c.1582A>G (p.Ile528Val)	CDHR1 (I528V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132607	NM_033100.4(CDHR1):c.1012C>T (p.Pro338Ser)	CDHR1 (P338S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2131038	NM_033100.4(CDHR1):c.74del (p.Pro25fs)	CDHR1 (P25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2129345	NM_033100.4(CDHR1):c.1564C>T (p.His522Tyr)	CDHR1 (H522Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127161	NM_033100.4(CDHR1):c.863-12C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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