ClinVar for Gene (Select 8436) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263589	NM_004657.6(CAVIN2):c.832A>C (p.Asn278His)	CAVIN2 (N278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263588	NM_004657.6(CAVIN2):c.109A>G (p.Ser37Gly)	CAVIN2, CAVIN2-AS1 (S37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263587	NM_004657.6(CAVIN2):c.484G>A (p.Glu162Lys)	CAVIN2 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263586	NM_004657.6(CAVIN2):c.444G>T (p.Gln148His)	CAVIN2 (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263584	NM_004657.6(CAVIN2):c.925G>A (p.Ala309Thr)	CAVIN2 (A309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263583	NM_004657.6(CAVIN2):c.1238C>T (p.Pro413Leu)	CAVIN2 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137897	NM_004657.6(CAVIN2):c.988G>A (p.Glu330Lys)	CAVIN2 (E330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137896	NM_004657.6(CAVIN2):c.827C>T (p.Thr276Met)	CAVIN2 (T276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137895	NM_004657.6(CAVIN2):c.805G>A (p.Glu269Lys)	CAVIN2 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137894	NM_004657.6(CAVIN2):c.768C>A (p.Asn256Lys)	CAVIN2 (N256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137893	NM_004657.6(CAVIN2):c.743G>A (p.Arg248His)	CAVIN2 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137892	NM_004657.6(CAVIN2):c.67C>T (p.Pro23Ser)	CAVIN2, CAVIN2-AS1 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137891	NM_004657.6(CAVIN2):c.666G>T (p.Lys222Asn)	CAVIN2 (K222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137890	NM_004657.6(CAVIN2):c.658G>A (p.Glu220Lys)	CAVIN2 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137889	NM_004657.6(CAVIN2):c.613G>A (p.Asp205Asn)	CAVIN2 (D205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137888	NM_004657.6(CAVIN2):c.598G>A (p.Val200Met)	CAVIN2 (V200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137887	NM_004657.6(CAVIN2):c.586A>G (p.Thr196Ala)	CAVIN2 (T196A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137886	NM_004657.6(CAVIN2):c.56G>A (p.Arg19Gln)	CAVIN2, CAVIN2-AS1 (R19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137885	NM_004657.6(CAVIN2):c.524C>T (p.Pro175Leu)	CAVIN2 (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137884	NM_004657.6(CAVIN2):c.517A>G (p.Lys173Glu)	CAVIN2 (K173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137883	NM_004657.6(CAVIN2):c.508G>A (p.Val170Met)	CAVIN2 (V170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137882	NM_004657.6(CAVIN2):c.500C>T (p.Pro167Leu)	CAVIN2 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137881	NM_004657.6(CAVIN2):c.497T>A (p.Ile166Asn)	CAVIN2 (I166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137880	NM_004657.6(CAVIN2):c.488A>C (p.Glu163Ala)	CAVIN2 (E163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137879	NM_004657.6(CAVIN2):c.455G>A (p.Arg152His)	CAVIN2 (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137878	NM_004657.6(CAVIN2):c.452G>A (p.Arg151Gln)	CAVIN2 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137877	NM_004657.6(CAVIN2):c.43G>A (p.Gly15Arg)	CAVIN2, CAVIN2-AS1 (G15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137876	NM_004657.6(CAVIN2):c.422G>C (p.Arg141Pro)	CAVIN2, CAVIN2-AS1 (R141P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137875	NM_004657.6(CAVIN2):c.410C>T (p.Ala137Val)	CAVIN2, CAVIN2-AS1 (A137V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137874	NM_004657.6(CAVIN2):c.306G>T (p.Lys102Asn)	CAVIN2, CAVIN2-AS1 (K102N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137873	NM_004657.6(CAVIN2):c.1252G>A (p.Val418Met)	CAVIN2 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137872	NM_004657.6(CAVIN2):c.1086G>C (p.Arg362Ser)	CAVIN2 (R362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651772	NM_004657.6(CAVIN2):c.171G>T (p.Thr57=)	CAVIN2, CAVIN2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2597411	NM_004657.6(CAVIN2):c.569A>G (p.Asn190Ser)	CAVIN2 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2560094	NM_004657.6(CAVIN2):c.1127T>A (p.Ile376Asn)	CAVIN2 (I376N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539286	NM_004657.6(CAVIN2):c.542A>G (p.Glu181Gly)	CAVIN2 (E181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536775	NM_004657.6(CAVIN2):c.1247C>T (p.Pro416Leu)	CAVIN2 (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478450	NM_004657.6(CAVIN2):c.485A>T (p.Glu162Val)	CAVIN2 (E162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1340150	GRCh37/hg19 2q32.3(chr2:192323573-193027319)x1	CAVIN2, NABP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979393	GRCh37/hg19 2q32.3(chr2:192323572-193027152)x1	CAVIN2, TMEFF2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 790511	NM_004657.6(CAVIN2):c.198G>A (p.Val66=)	CAVIN2, CAVIN2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782418	NM_004657.6(CAVIN2):c.519A>G (p.Lys173=)	CAVIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717193	NM_004657.6(CAVIN2):c.1191T>C (p.Gly397=)	CAVIN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 71