ClinVar for Gene (Select 51011) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091607	NM_016044.3(FAHD2A):c.841C>A (p.Pro281Thr)	FAHD2A (P281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091605	NM_016044.3(FAHD2A):c.467T>G (p.Val156Gly)	FAHD2A (V156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091604	NM_016044.3(FAHD2A):c.383A>G (p.Lys128Arg)	FAHD2A (K128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091603	NM_016044.3(FAHD2A):c.328T>C (p.Cys110Arg)	FAHD2A (C110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091602	NM_016044.3(FAHD2A):c.268G>C (p.Val90Leu)	FAHD2A (V90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091601	NM_016044.3(FAHD2A):c.224C>G (p.Ala75Gly)	FAHD2A (A75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091600	NM_016044.3(FAHD2A):c.19A>G (p.Arg7Gly)	FAHD2A (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091599	NM_016044.3(FAHD2A):c.152G>A (p.Gly51Glu)	FAHD2A (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2651121	NM_016044.3(FAHD2A):c.213G>A (p.Glu71=)	FAHD2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651120	NM_016044.3(FAHD2A):c.195G>A (p.Thr65=)	FAHD2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622029	NM_016044.3(FAHD2A):c.412A>G (p.Ser138Gly)	FAHD2A (S138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553895	NM_016044.3(FAHD2A):c.340A>G (p.Asn114Asp)	FAHD2A (N114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543813	NM_016044.3(FAHD2A):c.148G>A (p.Gly50Arg)	FAHD2A (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508649	NM_016044.3(FAHD2A):c.686A>T (p.Asp229Val)	FAHD2A (D229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466875	NM_016044.3(FAHD2A):c.823A>G (p.Ile275Val)	FAHD2A (I275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396927	NM_016044.3(FAHD2A):c.317A>C (p.Asp106Ala)	FAHD2A (D106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370195	NM_016044.3(FAHD2A):c.580C>T (p.Arg194Cys)	FAHD2A (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322967	NM_016044.3(FAHD2A):c.277C>T (p.Arg93Trp)	FAHD2A (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303833	NM_016044.3(FAHD2A):c.705C>G (p.Ile235Met)	FAHD2A (I235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283135	NM_016044.3(FAHD2A):c.76G>T (p.Asp26Tyr)	FAHD2A (D26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234236	NM_016044.3(FAHD2A):c.398T>C (p.Phe133Ser)	FAHD2A (F133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222543	NM_016044.3(FAHD2A):c.199A>G (p.Thr67Ala)	FAHD2A (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218698	NM_016044.3(FAHD2A):c.296T>G (p.Leu99Arg)	FAHD2A (L99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217190	NM_016044.3(FAHD2A):c.108C>G (p.His36Gln)	FAHD2A (H36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210762	NM_016044.3(FAHD2A):c.370G>A (p.Val124Met)	FAHD2A (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208265	NM_016044.3(FAHD2A):c.371T>A (p.Val124Glu)	FAHD2A (V124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809050	GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3	FAHD2A, KCNIP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 813848	GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3	ANKRD36C, FAHD2A +5 more	Copy number gain	Autism +1 more	GUncertain significance
Select item 689146	GRCh37/hg19 2q11.1(chr2:95800306-96097247)x1	FAHD2A, KCNIP3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394292	GRCh37/hg19 2q11.1(chr2:95944627-96147433)x3	FAHD2A, KCNIP3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 393822	GRCh37/hg19 2q11.1(chr2:96012844-96076672)x3	KCNIP3, FAHD2A	Copy number gain	See cases	GBenign
Select item 155574	GRCh38/hg38 2q11.1(chr2:95143653-95431499)x1	FAHD2A, KCNIP3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 148297	GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1	FAHD2A, KCNIP3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54