ClinVar for Gene (Select 84804) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294573	NM_032718.5(MFSD9):c.601G>A (p.Ala201Thr)	MFSD9 (A140T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294572	NM_032718.5(MFSD9):c.926C>T (p.Ala309Val)	MFSD9 (A309V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294571	NM_032718.5(MFSD9):c.494G>A (p.Arg165Gln)	MFSD9 (R104Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294570	NM_032718.5(MFSD9):c.394G>A (p.Val132Met)	MFSD9 (V71M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294569	NM_032718.5(MFSD9):c.566A>G (p.Tyr189Cys)	MFSD9 (Y128C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125850	NM_032718.5(MFSD9):c.973A>C (p.Ile325Leu)	MFSD9 (I325L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125849	NM_032718.5(MFSD9):c.938G>A (p.Arg313His)	MFSD9 (R252H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125848	NM_032718.5(MFSD9):c.937C>T (p.Arg313Cys)	MFSD9 (R252C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125845	NM_032718.5(MFSD9):c.862A>G (p.Ile288Val)	MFSD9 (I288V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125844	NM_032718.5(MFSD9):c.824G>A (p.Arg275Gln)	MFSD9 (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125843	NM_032718.5(MFSD9):c.563G>A (p.Gly188Asp)	MFSD9 (G127D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125842	NM_032718.5(MFSD9):c.422C>T (p.Pro141Leu)	MFSD9 (P141L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125840	NM_032718.5(MFSD9):c.314T>C (p.Val105Ala)	MFSD9 (V105A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125839	NM_032718.5(MFSD9):c.313G>A (p.Val105Ile)	MFSD9 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125838	NM_032718.5(MFSD9):c.304T>C (p.Trp102Arg)	MFSD9 (W41R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125837	NM_032718.5(MFSD9):c.18C>A (p.His6Gln)	MFSD9 (H6Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125836	NM_032718.5(MFSD9):c.1384C>A (p.His462Asn)	MFSD9 (H462N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125835	NM_032718.5(MFSD9):c.1324C>G (p.Pro442Ala)	MFSD9 (P381A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125834	NM_032718.5(MFSD9):c.1154C>A (p.Ser385Tyr)	MFSD9 (S385Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2622354	NM_032718.5(MFSD9):c.988A>G (p.Met330Val)	MFSD9 (M269V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610963	NM_032718.5(MFSD9):c.35C>T (p.Ala12Val)	MFSD9 (A12V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2602218	NM_032718.5(MFSD9):c.341C>A (p.Ala114Glu)	MFSD9 (A114E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599789	NM_032718.5(MFSD9):c.1267C>T (p.Arg423Cys)	MFSD9 (R423C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590355	NM_032718.5(MFSD9):c.1051C>A (p.Gln351Lys)	MFSD9 (Q290K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569929	NM_032718.5(MFSD9):c.451A>G (p.Ile151Val)	MFSD9 (I90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547374	NM_032718.5(MFSD9):c.941T>C (p.Phe314Ser)	MFSD9 (F314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537234	NM_032718.5(MFSD9):c.538T>C (p.Phe180Leu)	MFSD9 (F119L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530636	NM_032718.5(MFSD9):c.1012G>A (p.Ala338Thr)	MFSD9 (A277T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522582	NM_032718.5(MFSD9):c.325C>T (p.Arg109Trp)	MFSD9 (R109W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519976	NM_032718.5(MFSD9):c.392A>G (p.Asn131Ser)	MFSD9 (N131S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515435	NM_032718.5(MFSD9):c.842T>C (p.Leu281Pro)	MFSD9 (L220P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512939	NM_032718.5(MFSD9):c.1187C>T (p.Thr396Met)	MFSD9 (T396M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510372	NM_032718.5(MFSD9):c.470C>T (p.Ser157Phe)	MFSD9 (S96F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485618	NM_032718.5(MFSD9):c.326G>A (p.Arg109Gln)	MFSD9 (R48Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479028	NM_032718.5(MFSD9):c.266G>A (p.Gly89Asp)	MFSD9 (G89D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477900	NM_032718.5(MFSD9):c.1289C>G (p.Ser430Trp)	MFSD9 (S430W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468611	NM_032718.5(MFSD9):c.469T>C (p.Ser157Pro)	MFSD9 (S96P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393452	NM_032718.5(MFSD9):c.1178C>T (p.Thr393Met)	MFSD9 (T332M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381539	NM_032718.5(MFSD9):c.1294G>A (p.Val432Ile)	MFSD9 (V371I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375287	NM_032718.5(MFSD9):c.774G>T (p.Arg258Ser)	MFSD9 (R197S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372968	NM_032718.5(MFSD9):c.461C>T (p.Ala154Val)	MFSD9 (A93V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358553	NM_032718.5(MFSD9):c.1081A>T (p.Thr361Ser)	MFSD9 (T300S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349130	NM_032718.5(MFSD9):c.14G>T (p.Gly5Val)	LOC129934475, MFSD9 (G5V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2347079	NM_032718.5(MFSD9):c.14G>A (p.Gly5Asp)	LOC129934475, MFSD9 (G5D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2341777	NM_032718.5(MFSD9):c.1318G>A (p.Gly440Ser)	MFSD9 (G440S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287287	NM_032718.5(MFSD9):c.532G>A (p.Val178Met)	MFSD9 (V117M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279049	NM_032718.5(MFSD9):c.1310G>C (p.Ser437Thr)	MFSD9 (S376T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250803	NM_032718.5(MFSD9):c.631A>G (p.Asn211Asp)	MFSD9 (N150D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225236	NM_032718.5(MFSD9):c.889A>G (p.Met297Val)	MFSD9 (M297V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224770	NM_032718.5(MFSD9):c.406G>T (p.Val136Phe)	MFSD9 (V136F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217681	NM_032718.5(MFSD9):c.493C>G (p.Arg165Gly)	MFSD9 (R165G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809233	GRCh37/hg19 2q11.2-12.1(chr2:102443532-105019078)x1	IL18R1, IL18RAP +9 more	Copy number loss	not provided	GUncertain significance
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 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 775747	NM_032718.5(MFSD9):c.1126G>A (p.Ala376Thr)	MFSD9 (A315T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775746	NM_032718.5(MFSD9):c.1321C>G (p.Pro441Ala)	MFSD9 (P441A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711849	NM_032718.5(MFSD9):c.385G>T (p.Ala129Ser)	MFSD9 (A129S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687771	GRCh37/hg19 2q11.2-12.1(chr2:102248064-103361749)x3	IL18R1, IL18RAP +8 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
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 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	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 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
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 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75