ClinVar for Gene (Select 127898555) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024381	GRCh38/hg38 16p13.11(chr16:15399656-16194269)	ABCC1, ABCC6 +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2615883	NM_001128423.2(MPV17L):c.329G>A (p.Gly110Glu)	MPV17L, MPV17L-BMERB1 (G110E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2610768	NM_001128423.2(MPV17L):c.121C>G (p.Arg41Gly)	MPV17L, MPV17L-BMERB1 (R41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2554254	NM_001128423.2(MPV17L):c.91G>C (p.Gly31Arg)	MPV17L, MPV17L-BMERB1 (G31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546169	NM_001128423.2(MPV17L):c.365T>C (p.Phe122Ser)	MPV17L, MPV17L-BMERB1 (F122S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519953	NM_001128423.2(MPV17L):c.148C>T (p.Arg50Cys)	MPV17L, MPV17L-BMERB1 (R50C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	MIR3180-4, MIR6770-2 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 2483041	NM_001128423.2(MPV17L):c.548A>G (p.Tyr183Cys)	MPV17L, MPV17L-BMERB1 (Y183C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2402300	NM_001128423.2(MPV17L):c.382A>G (p.Ser128Gly)	MPV17L, MPV17L-BMERB1 (S128G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397852	NM_001128423.2(MPV17L):c.323T>C (p.Leu108Pro)	MPV17L, MPV17L-BMERB1 (L108P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361099	NM_001128423.2(MPV17L):c.374C>G (p.Thr125Ser)	MPV17L, MPV17L-BMERB1 (T125S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350068	NM_001128423.2(MPV17L):c.581C>T (p.Pro194Leu)	MPV17L, MPV17L-BMERB1 (P194L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339102	NM_001128423.2(MPV17L):c.236C>G (p.Pro79Arg)	MPV17L, MPV17L-BMERB1 (P79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321655	NM_001128423.2(MPV17L):c.77C>G (p.Ser26Trp)	MPV17L, MPV17L-BMERB1 (S26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318568	NM_001128423.2(MPV17L):c.10T>C (p.Trp4Arg)	MPV17L, MPV17L-BMERB1 (W4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298121	NM_001128423.2(MPV17L):c.434C>A (p.Pro145His)	MPV17L, MPV17L-BMERB1 (P145H)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288172	NM_001128423.2(MPV17L):c.146G>C (p.Arg49Pro)	MPV17L, MPV17L-BMERB1 (R49P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263912	NM_001128423.2(MPV17L):c.182A>C (p.Asn61Thr)	MPV17L-BMERB1, MPV17L (N61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255970	NM_001128423.2(MPV17L):c.56C>A (p.Thr19Asn)	MPV17L, MPV17L-BMERB1 (T19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246295	NM_001128423.2(MPV17L):c.17C>A (p.Pro6Gln)	MPV17L, MPV17L-BMERB1 (P6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222130	NM_001128423.2(MPV17L):c.89C>T (p.Ala30Val)	MPV17L, MPV17L-BMERB1 (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213080	NM_001128423.2(MPV17L):c.240C>A (p.His80Gln)	MPV17L, MPV17L-BMERB1 (H80Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545193	Single allele	ABCC1, ABCC6 +24 more	Duplication	Autism	GPathogenic
Select item 545192	NC_000016.10:g.(?_15328439)_(16443962_?)del	ABCC1, ABCC6 +35 more	Deletion	Schizophrenia	GPathogenic
Select item 545191	Single allele	ABCC1, ABCC6 +26 more	Duplication	Schizophrenia	GPathogenic
Select item 545190	Single allele	MPV17L-BMERB1, NPIPA7 +66 more	Duplication	Schizophrenia	GPathogenic
Select item 545189	Single allele	LOC125146419, LOC126862299 +83 more	Duplication	Schizophrenia	GPathogenic
Select item 545188	Single allele	ABCC1, ABCC6 +43 more	Duplication	Schizophrenia	GPathogenic
Select item 545187	Single allele	ABCC1, ABCC6 +43 more	Duplication	Schizophrenia	GPathogenic
Select item 545186	NC_000016.10:g.(?_14780667)_(16415941_?)del	MIR3180-1, MIR3180-2 +54 more	Deletion	Schizophrenia	GPathogenic
Select item 545185	NC_000016.10:g.(?_14757009)_(16763184_?)del	ABCC1, ABCC6 +55 more	Deletion	Autism	GPathogenic
Select item 161075	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3	ABCC1, ABCC6 +64 more	Copy number gain	See cases	GUncertain significance
Select item 160987	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 160973	GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3	ABCC1, BMERB1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 160961	GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3	ABCC1, BMERB1 +40 more	Copy number gain	See cases	GUncertain significance
Select item 160931	GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1	ABCC1, BMERB1 +20 more	Copy number loss	See cases	GPathogenic
Select item 160930	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 160807	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 160804	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 157357	NR_037466.1(MIR3180-4):n.-250198_93962del	LOC100505915, LOC112340378 +8 more	Deletion	Preeclampsia	Gnot provided
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 155541	GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155349	GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155253	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3	MIR484, MIR6506 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155163	GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1	ABCC1, ABCC6 +26 more	Copy number loss	See cases	GPathogenic
Select item 155137	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 155098	GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	ABCC1, ABCC6 +95 more	Copy number gain	See cases	GUncertain significance
Select item 155029	GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154958	GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1	ABCC1, ABCC6 +24 more	Copy number loss	See cases	GPathogenic
Select item 154784	GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154755	GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154498	GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154462	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 154376	GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1	ABCC1, BMERB1 +40 more	Copy number loss	See cases	GPathogenic
Select item 154289	GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154272	GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154161	GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 154123	GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1	ABCC1, ABCC6 +35 more	Copy number loss	See cases	GPathogenic
Select item 153954	GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3	ABCC1, ABCC6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 153938	GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 153858	GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3	NDE1, NOMO3 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153841	GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153812	GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1	ABCC1, ABCC6 +25 more	Copy number loss	See cases	GPathogenic
Select item 153650	GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153622	GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3	ABCC1, ABCC6 +23 more	Copy number gain	See cases	GUncertain significance
Select item 153612	GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3	MIR3179-2, MIR3180-1 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153547	GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 153476	GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3	ABCC1, ABCC6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 153386	GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1	ABCC1, ABCC6 +45 more	Copy number loss	See cases	GPathogenic
Select item 153315	GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153310	GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 153194	GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 152703	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152383	GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152336	GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3	ABCC1, ABCC6 +24 more	Copy number gain	See cases	GUncertain significance
Select item 152188	GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152185	GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3	ABCC1, ABCC6 +26 more	Copy number gain	See cases	GUncertain significance
Select item 152128	GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152077	GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3	ABCC1, ABCC6 +57 more	Copy number gain	See cases	GUncertain significance
Select item 151990	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 151962	GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3	ABCC1, ABCC6 +80 more	Copy number gain	See cases	GUncertain significance
Select item 151153	GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3	LOC112340379, ABCC1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 150853	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GPathogenic
Select item 150622	GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 150612	GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1	ABCC1, ABCC6 +35 more	Copy number loss	See cases	GPathogenic
Select item 150328	GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3	ABCC1, ABCC6 +25 more	Copy number gain	See cases	GUncertain significance
Select item 150157	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3	ABCC1, ABCC6 +76 more	Copy number gain	See cases	GUncertain significance
Select item 149876	GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 149549	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 149523	GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1	ABCC1, ABCC6 +23 more	Copy number loss	See cases	GPathogenic
Select item 149520	GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1	ABCC1, ABCC6 +43 more	Copy number loss	See cases	GPathogenic
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 149151	GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3	ABCC1, ABCC6 +35 more	Copy number gain	See cases	GUncertain significance
Select item 149110	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GLikely pathogenic
Select item 149045	GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 148975	GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic

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