ClinVar for Gene (Select 9465) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281115	NM_016377.4(AKAP7):c.207G>C (p.Lys69Asn)	AKAP7 (K69N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281103	NM_016377.4(AKAP7):c.209G>A (p.Ser70Asn)	AKAP7 (S48N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281094	NM_016377.4(AKAP7):c.1012C>G (p.Gln338Glu)	AKAP7 (Q294E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281084	NM_016377.4(AKAP7):c.94A>G (p.Met32Val)	AKAP7 (M10V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3106404	NM_016377.4(AKAP7):c.91A>G (p.Thr31Ala)	AKAP7 (T9A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106398	NM_016377.4(AKAP7):c.768A>G (p.Ile256Met)	AKAP7 (I234M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3106380	NM_016377.4(AKAP7):c.107T>G (p.Val36Gly)	AKAP7 (V14G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062941	GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3	AKAP7, ARG1 +6 more	Copy number gain	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 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 2620909	NM_016377.4(AKAP7):c.734A>C (p.Glu245Ala)	AKAP7 (E201A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595336	NM_016377.4(AKAP7):c.25A>G (p.Ile9Val)	AKAP7 (I9V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2588264	NM_016377.4(AKAP7):c.772T>A (p.Tyr258Asn)	AKAP7 (Y236N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544744	NM_016377.4(AKAP7):c.394G>A (p.Val132Met)	AKAP7 (V110M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489306	NM_016377.4(AKAP7):c.895C>T (p.Leu299Phe)	AKAP7 (L32F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347577	NM_016377.4(AKAP7):c.979G>A (p.Glu327Lys)	AKAP7 (E283K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333326	NM_016377.4(AKAP7):c.39G>C (p.Glu13Asp)	AKAP7 (E13D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2287692	NM_016377.4(AKAP7):c.572C>T (p.Ser191Leu)	AKAP7 (S147L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278298	NM_016377.4(AKAP7):c.162A>T (p.Glu54Asp)	AKAP7 (E54D +2 more)	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 1527290	GRCh37/hg19 6q23.1-23.2(chr6:130949600-131924268)	AKAP7, ARG1 +3 more	Copy number gain	not specified	GUncertain significance
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 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
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 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 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	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

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Links from Gene

Items: 35