CAVIN2-AS1[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 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 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	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 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	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 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
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 790511	NM_004657.6(CAVIN2):c.198G>A (p.Val66=)	CAVIN2, CAVIN2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 3326614	NM_016192.4(TMEFF2):c.1043G>T (p.Ser348Ile)	CAVIN2-AS1, TMEFF2 (S348I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3178382	NM_016192.4(TMEFF2):c.977T>C (p.Ile326Thr)	CAVIN2-AS1, TMEFF2 (I326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206033	NM_016192.4(TMEFF2):c.967G>A (p.Ala323Thr)	CAVIN2-AS1, TMEFF2 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261140	NM_016192.4(TMEFF2):c.916A>G (p.Ser306Gly)	CAVIN2-AS1, TMEFF2 (S306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608305	NM_016192.4(TMEFF2):c.811G>A (p.Gly271Ser)	CAVIN2-AS1, TMEFF2 (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242028	NM_016192.4(TMEFF2):c.739T>C (p.Tyr247His)	CAVIN2-AS1, TMEFF2 (Y247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775799	NM_016192.4(TMEFF2):c.442C>T (p.His148Tyr)	CAVIN2-AS1, TMEFF2 (H148Y)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 27