4327[geneid] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3295310	NM_002429.6(MMP19):c.1501G>A (p.Ala501Thr)	MMP19 (A419T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 776717	NM_002429.6(MMP19):c.1462C>A (p.Pro488Thr)	MMP19 (P488T)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 721954	NM_002429.6(MMP19):c.1450G>A (p.Gly484Arg)	MMP19 (G484R)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3158009	NM_002429.6(MMP19):c.1439C>A (p.Thr480Asn)	MMP19 (T398N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2365063	NM_002429.6(MMP19):c.1438A>G (p.Thr480Ala)	MMP19 (T480A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2207775	NM_002429.6(MMP19):c.1423C>T (p.Arg475Trp)	MMP19 (R393W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455485	NM_002429.6(MMP19):c.1417C>T (p.Arg473Cys)	MMP19 (R473C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2454617	NM_002429.6(MMP19):c.1417C>G (p.Arg473Gly)	MMP19 (R391G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 773261	NM_002429.6(MMP19):c.1367G>A (p.Arg456Gln)	MMP19 (R456Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2372569	NM_002429.6(MMP19):c.1348C>T (p.Arg450Cys)	MMP19 (R368C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550681	NM_002429.6(MMP19):c.1324T>A (p.Phe442Ile)	MMP19 (F442I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2234339	NM_002429.6(MMP19):c.1255A>G (p.Lys419Glu)	MMP19 (K337E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3295314	NM_002429.6(MMP19):c.1160C>T (p.Pro387Leu)	MMP19 (P305L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 559536	NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter)	MMP19 (Y385*)	Single nucleotide variant (nonsense +2 more)	Interstitial lung disease 2	GUncertain significance
Select item 777429	NM_002429.6(MMP19):c.1152C>T (p.Leu384=)	MMP19	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3295313	NM_002429.6(MMP19):c.1139T>C (p.Leu380Pro)	MMP19 (L380P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295312	NM_002429.6(MMP19):c.1138C>G (p.Leu380Val)	MMP19 (L298V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157793	NM_002429.6(MMP19):c.1028C>T (p.Ser343Leu)	MMP19 (S343L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2379056	NM_002429.6(MMP19):c.919T>C (p.Phe307Leu)	MMP19 (F307L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158532	NM_002429.6(MMP19):c.901C>T (p.Arg301Cys)	MMP19 (P254L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290644	NM_002429.6(MMP19):c.830C>T (p.Pro277Leu)	MMP19 (P195L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158513	NM_002429.6(MMP19):c.826C>T (p.Pro276Ser)	MMP19 (P197S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2532935	NM_002429.6(MMP19):c.778C>A (p.Pro260Thr)	MMP19 (P181T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375743	NM_002429.6(MMP19):c.757G>A (p.Ala253Thr)	MMP19 (A253T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513079	NM_002429.6(MMP19):c.749G>T (p.Gly250Val)	MMP19 (G171V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330593	NM_002429.6(MMP19):c.743T>C (p.Val248Ala)	MMP19 (V169A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773547	NM_002429.6(MMP19):c.733C>T (p.Pro245Ser)	MMP19 (P245S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2643064	NM_002429.6(MMP19):c.729G>A (p.Leu243=)	MMP19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2217647	NM_002429.6(MMP19):c.671G>A (p.Arg224Gln)	MMP19 (R145Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556172	NM_002429.6(MMP19):c.656G>T (p.Gly219Val)	MMP19 (G140V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543797	NM_002429.6(MMP19):c.623T>A (p.Ile208Asn)	MMP19 (I129N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158313	NM_002429.6(MMP19):c.580G>A (p.Glu194Lys)	MMP19 (E194K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224718	NM_002429.6(MMP19):c.556G>A (p.Gly186Ser)	MMP19 (G186S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611825	NM_002429.6(MMP19):c.551A>C (p.Glu184Ala)	MMP19 (E184A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539670	NM_002429.6(MMP19):c.539C>T (p.Ala180Val)	MMP19 (A101V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398106	NM_002429.6(MMP19):c.503A>G (p.Asn168Ser)	MMP19 (N168S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158151	NM_002429.6(MMP19):c.481C>T (p.Arg161Cys)	MMP19 (R161C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3158117	NM_002429.6(MMP19):c.472T>C (p.Phe158Leu)	MMP19 (F158L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295311	NM_002429.6(MMP19):c.457G>C (p.Asp153His)	MMP19 (D153H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512797	NM_002429.6(MMP19):c.452C>T (p.Ala151Val)	MMP19 (A151V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362072	NM_002429.6(MMP19):c.397T>A (p.Phe133Ile)	MMP19 (F54I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709455	NM_002429.6(MMP19):c.307C>T (p.Arg103Cys)	MMP19 (R103C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3250836	NM_002429.6(MMP19):c.225C>T (p.Ala75=)	MMP19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3158028	NM_002429.6(MMP19):c.146A>G (p.Lys49Arg)	MMP19 (K49R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1321174	NM_002429.6(MMP19):c.84T>C (p.Pro28=)	MMP19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 776718	NM_002429.6(MMP19):c.84= (p.Pro28=)	MMP19	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 3035579	NM_002429.6(MMP19):c.15G>A (p.Gln5=)	MMP19	Single nucleotide variant (synonymous variant +1 more)	MMP19-related disorder	GLikely benign
Select item 776900	NM_002429.6(MMP19):c.13C>T (p.Gln5Ter)	MMP19 (Q5*)	Single nucleotide variant (nonsense +1 more)	Familial cavitary optic disk anomaly +1 more	GBenign/Likely benign
Select item 208981	GRCh38/hg38 12q13.2(chr12:55845043-55851177)	MMP19	Duplication	Familial cavitary optic disk anomaly	GPathogenic
Select item 180748	GRCh38/hg38 12q13.2(chr12:55845043-55851177)x4	MMP19	Copy number gain	Familial cavitary optic disk anomaly	GPathogenic
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 58