15683[HGNC] - ClinVar

Search results

Items: 91

	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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 2264536	NM_030765.4(B3GNT4):c.52G>A (p.Gly18Ser)	B3GNT4 (G18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258882	NM_030765.4(B3GNT4):c.104C>T (p.Ser35Leu)	B3GNT4 (S35L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514028	NM_030765.4(B3GNT4):c.109A>G (p.Ser37Gly)	B3GNT4 (S12G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258891	NM_030765.4(B3GNT4):c.179C>T (p.Thr60Met)	B3GNT4 (T35M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132580	NM_030765.4(B3GNT4):c.203C>T (p.Pro68Leu)	B3GNT4 (P68L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132581	NM_030765.4(B3GNT4):c.217C>T (p.His73Tyr)	B3GNT4 (H73Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310250	NM_030765.4(B3GNT4):c.268C>T (p.Pro90Ser)	B3GNT4 (P65S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205953	NM_030765.4(B3GNT4):c.317C>G (p.Ser106Cys)	B3GNT4 (S81C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388816	NM_030765.4(B3GNT4):c.346A>G (p.Lys116Glu)	B3GNT4 (K91E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258860	NM_030765.4(B3GNT4):c.423G>T (p.Trp141Cys)	B3GNT4 (W116C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258871	NM_030765.4(B3GNT4):c.452G>A (p.Arg151Gln)	B3GNT4 (R126Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219704	NM_030765.4(B3GNT4):c.469T>C (p.Phe157Leu)	B3GNT4 (F157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258849	NM_030765.4(B3GNT4):c.560C>A (p.Thr187Asn)	B3GNT4 (T162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132582	NM_030765.4(B3GNT4):c.573C>A (p.Phe191Leu)	B3GNT4 (F191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548088	NM_030765.4(B3GNT4):c.604C>A (p.Arg202Ser)	B3GNT4 (R177S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558177	NM_030765.4(B3GNT4):c.632C>T (p.Ala211Val)	B3GNT4 (A186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605646	NM_030765.4(B3GNT4):c.648G>T (p.Lys216Asn)	B3GNT4 (K216N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132583	NM_030765.4(B3GNT4):c.673G>A (p.Val225Ile)	B3GNT4 (V200I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226454	NM_030765.4(B3GNT4):c.682G>A (p.Val228Met)	B3GNT4 (V228M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132584	NM_030765.4(B3GNT4):c.769A>G (p.Lys257Glu)	B3GNT4 (K232E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132585	NM_030765.4(B3GNT4):c.796A>G (p.Met266Val)	B3GNT4 (M241V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365149	NM_030765.4(B3GNT4):c.802A>G (p.Arg268Gly)	B3GNT4 (R268G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258901	NM_030765.4(B3GNT4):c.823T>A (p.Tyr275Asn)	B3GNT4 (Y275N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258911	NM_030765.4(B3GNT4):c.839G>T (p.Gly280Val)	B3GNT4 (G255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383366	NM_030765.4(B3GNT4):c.869G>A (p.Arg290His)	B3GNT4 (R265H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397945	NM_030765.4(B3GNT4):c.910G>A (p.Asp304Asn)	B3GNT4 (D279N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132586	NM_030765.4(B3GNT4):c.991C>T (p.Arg331Trp)	B3GNT4 (R306W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395702	NM_030765.4(B3GNT4):c.995G>A (p.Arg332Gln)	B3GNT4 (R307Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132577	NM_030765.4(B3GNT4):c.1030G>A (p.Gly344Arg)	B3GNT4 (G344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132578	NM_030765.4(B3GNT4):c.1033C>G (p.Leu345Val)	B3GNT4 (L345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208607	NM_030765.4(B3GNT4):c.1049G>A (p.Arg350His)	B3GNT4 (R325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132579	NM_030765.4(B3GNT4):c.1069T>G (p.Trp357Gly)	B3GNT4 (W357G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481847	NM_030765.4(B3GNT4):c.1108T>G (p.Cys370Gly)	B3GNT4 (C370G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494008	NM_030765.4(B3GNT4):c.1133G>A (p.Arg378His)	B3GNT4 (R378H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279245	NM_001371333.1(DIABLO):c.*262dup	B3GNT4, DIABLO	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1247587	NM_001371333.1(DIABLO):c.*108A>G	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1327665	NM_001371333.1(DIABLO):c.*78G>A	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249498	NM_001371333.1(DIABLO):c.*54T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3250381	NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg)	B3GNT4, DIABLO	Single nucleotide variant (stop lost +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GLikely pathogenic
Select item 374551	NM_001371333.1(DIABLO):c.702_712del (p.Tyr235fs)	B3GNT4, DIABLO (Y162fs +4 more)	Deletion (frameshift variant +1 more)	Hearing impairment +1 more	GUncertain significance
Select item 3082352	NM_001371333.1(DIABLO):c.710G>C (p.Arg237Pro)	B3GNT4, DIABLO (R193P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2884548	NM_001371333.1(DIABLO):c.710G>A (p.Arg237His)	B3GNT4, DIABLO (R184H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643493	NM_001371333.1(DIABLO):c.709C>T (p.Arg237Cys)	B3GNT4, DIABLO (R140C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176829	NM_001371333.1(DIABLO):c.699_700delinsCT (p.Glu233_Ala234delinsAspSer)	B3GNT4, DIABLO	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1633306	NM_001371333.1(DIABLO):c.677_700del (p.Glu226_Glu233del)	B3GNT4, DIABLO	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 226562	NM_001371333.1(DIABLO):c.690G>A (p.Ser230=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2810761	NM_001371333.1(DIABLO):c.689C>T (p.Ser230Leu)	B3GNT4, DIABLO (S133L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528921	NM_001371333.1(DIABLO):c.675G>A (p.Glu225=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 288171	NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)	B3GNT4, DIABLO (G224R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 514568	NM_001371333.1(DIABLO):c.660A>G (p.Thr220=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 929895	NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs)	B3GNT4, DIABLO (Q115fs +4 more)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2084056	NM_001371333.1(DIABLO):c.627A>G (p.Ala209=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017856	NM_001371333.1(DIABLO):c.614A>C (p.Glu205Ala)	B3GNT4, DIABLO (E161A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958034	NM_001371333.1(DIABLO):c.611C>T (p.Ala204Val)	B3GNT4, DIABLO (A107V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440779	NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)	B3GNT4, DIABLO (R105Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2636845	NM_001371333.1(DIABLO):c.604C>T (p.Arg202Trp)	B3GNT4, DIABLO (R105W +4 more)	Single nucleotide variant (missense variant +1 more)	DIABLO-related disorder	GUncertain significance
Select item 2186725	NM_001371333.1(DIABLO):c.593A>G (p.His198Arg)	B3GNT4, DIABLO (H101R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086048	NM_001371333.1(DIABLO):c.567G>A (p.Leu189=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 514370	NM_001371333.1(DIABLO):c.546C>T (p.Thr182=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1201322	NM_001371333.1(DIABLO):c.525C>T (p.Gly175=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1317978	NM_001371333.1(DIABLO):c.524-20A>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1276605	NM_001371333.1(DIABLO):c.524-255T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 688463	GRCh37/hg19 12q24.31(chr12:122681331-122730394)x1	B3GNT4, DIABLO +2 more	Copy number loss	not provided	GUncertain significance
Select item 687858	GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1	B3GNT4, BCL7A +8 more	Copy number loss	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 686027	GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3	B3GNT4, CLIP1 +7 more	Copy number gain	not provided	GUncertain significance
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 394726	GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3	CLIP1, DIABLO +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253773	GRCh37/hg19 12q24.31(chr12:122676019-122710016)x1	B3GNT4, DIABLO +1 more	Copy number loss	See cases	GUncertain significance

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Items: 91