ClinVar for Gene (Select 8417) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323478	NM_003569.3(STX7):c.208A>G (p.Ile70Val)	STX7 (I70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323477	NM_003569.3(STX7):c.470A>G (p.Asp157Gly)	STX7 (D157G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323476	NM_003569.3(STX7):c.239C>G (p.Pro80Arg)	STX7 (P80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3171777	NM_003569.3(STX7):c.80A>T (p.Gln27Leu)	STX7 (Q27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171776	NM_003569.3(STX7):c.772G>A (p.Gly258Arg)	STX7 (G258R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171774	NM_003569.3(STX7):c.676A>G (p.Arg226Gly)	STX7 (R226G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
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 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2616297	NM_003569.3(STX7):c.14C>T (p.Pro5Leu)	STX7 (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558816	NM_003569.3(STX7):c.307A>G (p.Asn103Asp)	STX7 (N103D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274783	NM_003569.3(STX7):c.170A>G (p.Gln57Arg)	STX7 (Q57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264523	NM_003569.3(STX7):c.253C>G (p.Gln85Glu)	STX7 (Q85E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215948	NM_003569.3(STX7):c.497G>A (p.Arg166His)	STX7 (R166H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 218904	NM_003569.3(STX7):c.159A>C (p.Gln53His)	STX7 (Q53H)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GLikely pathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 59545	GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3	LINC00326, LOC123864071 +34 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 25