ClinVar for Gene (Select 10924) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3166691	NM_006714.5(SMPDL3A):c.851A>T (p.Asp284Val)	SMPDL3A (D153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166690	NM_006714.5(SMPDL3A):c.602C>G (p.Pro201Arg)	SMPDL3A (P201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166689	NM_006714.5(SMPDL3A):c.420T>G (p.Phe140Leu)	SMPDL3A (F9L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166688	NM_006714.5(SMPDL3A):c.22G>C (p.Val8Leu)	LOC123833537, SMPDL3A (V8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166687	NM_006714.5(SMPDL3A):c.152C>T (p.Thr51Ile)	SMPDL3A (T51I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166686	NM_006714.5(SMPDL3A):c.1015C>G (p.Gln339Glu)	SMPDL3A (Q208E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2611780	NM_006714.5(SMPDL3A):c.767G>T (p.Gly256Val)	SMPDL3A (G256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2490021	NM_006714.5(SMPDL3A):c.749T>C (p.Ile250Thr)	SMPDL3A (I119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465459	NM_006714.5(SMPDL3A):c.315G>T (p.Met105Ile)	SMPDL3A (M105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377714	NM_006714.5(SMPDL3A):c.71C>T (p.Pro24Leu)	LOC123833537, SMPDL3A (P24L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373464	NM_006714.5(SMPDL3A):c.700G>C (p.Glu234Gln)	SMPDL3A (E234Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341506	NM_006714.5(SMPDL3A):c.848G>A (p.Ser283Asn)	SMPDL3A (S152N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317456	NM_006714.5(SMPDL3A):c.493A>G (p.Ser165Gly)	SMPDL3A (S34G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286308	NM_006714.5(SMPDL3A):c.31C>G (p.Leu11Val)	LOC123833537, SMPDL3A (L11V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280291	NM_006714.5(SMPDL3A):c.550A>G (p.Ile184Val)	SMPDL3A (I53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278369	NM_006714.5(SMPDL3A):c.443C>T (p.Ala148Val)	SMPDL3A (A17V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255295	NM_006714.5(SMPDL3A):c.216C>A (p.Asn72Lys)	SMPDL3A (N72K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218020	NM_006714.5(SMPDL3A):c.308C>T (p.Ser103Phe)	SMPDL3A (S103F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808541	GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3	CLVS2, FABP7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 688088	GRCh37/hg19 6q22.31(chr6:123098754-123121472)x1	FABP7, SMPDL3A	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43