84334[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 673113	NM_032374.4:c.-177C>A	COA8, LOC130056587	Single nucleotide variant	not provided	GBenign
Select item 1189057	NC_000014.9:g.103562805G>A	COA8, LOC130056587	Single nucleotide variant	not provided	GLikely benign
Select item 1244059	NC_000014.9:g.103562854GCC[3]	COA8, LOC130056587	Microsatellite	not provided	GBenign
Select item 1270467	NC_000014.9:g.103562909G>A	COA8, LOC130056587	Single nucleotide variant	not provided	GBenign
Select item 380166	NC_000014.9:g.103562952G>T	COA8	Single nucleotide variant	not specified	GBenign
Select item 742351	NM_001370595.2(COA8):c.-34G>A	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3147002	NM_001370595.2(COA8):c.-32C>T	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1526292	NM_001370595.2(COA8):c.-32C>G	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2019456	NM_001370595.2(COA8):c.-28C>T	COA8	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2083064	NM_001370595.2(COA8):c.-26C>A	COA8 (A5D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681850	NM_001370595.2(COA8):c.-16C>T	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1030024	NM_001370595.2(COA8):c.-10dup	COA8	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1681851	NM_001370595.2(COA8):c.-11G>A	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3146996	NM_001370595.2(COA8):c.-9C>T	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1681852	NM_001370595.2(COA8):c.-7T>G	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2958721	NM_001370595.2(COA8):c.1A>G (p.Met1Val)	COA8 (M1V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3146998	NM_001370595.2(COA8):c.2T>G (p.Met1Arg)	COA8 (M1R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3146997	NM_001370595.2(COA8):c.2T>C (p.Met1Thr)	COA8 (M1T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 381843	NM_001370595.2(COA8):c.8T>C (p.Val3Ala)	COA8 (V3A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3039466	NM_001370595.2(COA8):c.13C>A (p.Arg5=)	COA8	Single nucleotide variant (synonymous variant +1 more)	COA8-related disorder	GLikely benign
Select item 2062205	NM_001370595.2(COA8):c.20G>A (p.Gly7Glu)	COA8 (G7E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 377320	NM_001370595.2(COA8):c.23A>G (p.Lys8Arg)	COA8 (K8R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3147001	NM_001370595.2(COA8):c.32T>G (p.Phe11Cys)	COA8 (F11C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 638510	NM_001370595.2(COA8):c.41dup (p.Leu15fs)	COA8 (L15fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 1681853	NM_001370595.2(COA8):c.36C>T (p.Leu12=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1061664	NM_001370595.2(COA8):c.40C>T (p.Pro14Ser)	COA8 (P14S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 381449	NM_001370595.2(COA8):c.40C>A (p.Pro14Thr)	COA8 (P14T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 379942	NM_001370595.2(COA8):c.40C>G (p.Pro14Ala)	COA8 (P14A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GBenign
Select item 1989713	NM_001370595.2(COA8):c.41C>T (p.Pro14Leu)	COA8 (P27L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921730	NM_001370595.2(COA8):c.41C>A (p.Pro14His)	COA8 (P14H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382991	NM_001370595.2(COA8):c.41C>G (p.Pro14Arg)	COA8 (P14R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2413799	NM_001370595.2(COA8):c.49C>G (p.Arg17Gly)	COA8 (R17G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681854	NM_001370595.2(COA8):c.49C>T (p.Arg17Cys)	COA8 (R17C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965084	NM_001370595.2(COA8):c.50G>T (p.Arg17Leu)	COA8 (R17L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939999	NM_001370595.2(COA8):c.54C>T (p.Ala18=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1299962	NM_001370595.2(COA8):c.56_70del (p.Phe19_Gly23del)	COA8	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1032951	NM_001370595.2(COA8):c.67G>T (p.Gly23Cys)	COA8 (G23C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1681855	NM_001370595.2(COA8):c.69C>A (p.Gly23=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067754	NM_001370595.2(COA8):c.75A>G (p.Gln25=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2157191	NM_001370595.2(COA8):c.80C>T (p.Ala27Val)	COA8 (A27V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 715529	NM_001370595.2(COA8):c.81T>C (p.Ala27=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1681856	NM_001370595.2(COA8):c.85G>A (p.Glu29Lys)	COA8 (E29K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1681857	NM_001370595.2(COA8):c.89_108dup (p.Thr37fs)	COA8 (T37fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2523113	NM_001370595.2(COA8):c.91G>C (p.Gly31Arg)	COA8 (G31R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3146994	NM_001370595.2(COA8):c.95C>G (p.Ala32Gly)	COA8 (A32G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3234487	NM_001370595.2(COA8):c.96C>G (p.Ala32=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3255585	NM_001370595.2(COA8):c.102_121dup (p.Gly41fs)	COA8 (G41fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17	GLikely pathogenic
Select item 1681858	NM_001370595.2(COA8):c.97G>A (p.Glu33Lys)	COA8 (E33K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2663745	NM_001370595.2(COA8):c.100C>G (p.Arg34Gly)	COA8 (R34G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 559337	NM_001370595.2(COA8):c.101G>T (p.Arg34Leu)	COA8 (R34L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 725984	NM_001370595.2(COA8):c.104G>A (p.Arg35Lys)	COA8 (R35K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1809698	NM_001370595.2(COA8):c.106G>T (p.Asp36Tyr)	COA8 (D36Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17	GUncertain significance
Select item 1011681	NM_001370595.2(COA8):c.111_112delinsAA (p.Ala38Thr)	COA8 (A38T)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 379943	NM_001370595.2(COA8):c.111G>A (p.Thr37=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1712717	NM_001370595.2(COA8):c.112G>A (p.Ala38Thr)	COA8 (A38T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 743866	NM_001370595.2(COA8):c.117C>T (p.Pro39=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1681859	NM_001370595.2(COA8):c.123G>A (p.Gly41=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 514386	NM_001370595.2(COA8):c.123+6C>T	COA8	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1681860	NM_001370595.2(COA8):c.123+10G>C	COA8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 515737	NM_001370595.2(COA8):c.123+10G>A	COA8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 389633	NM_001370595.2(COA8):c.123+12C>T	COA8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1217996	NM_001370595.2(COA8):c.123+60G>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677059	NM_001370595.2(COA8):c.124-91G>A	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958737	NM_001370595.2(COA8):c.124-20T>C	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 156422	NM_001370595.2(COA8):c.124-1G>A	COA8	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 1681861	NM_001370595.2(COA8):c.129A>C (p.Ser43=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1935659	NM_001370595.2(COA8):c.151T>A (p.Ser51Thr)	COA8 (S51T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3146995	NM_001370595.2(COA8):c.163T>C (p.Trp55Arg)	COA8 (W55R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524954	NM_001370595.2(COA8):c.167T>A (p.Ile56Lys)	COA8 (I56K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2581720	NM_001370595.2(COA8):c.170_173dup (p.Pro59fs)	COA8 (P59fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 1681862	NM_001370595.2(COA8):c.172C>A (p.Pro58Thr)	COA8 (P58T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 2683787	NM_001370595.2(COA8):c.184_187del (p.Tyr62fs)	COA8 (Y62fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3268411	NM_001370595.2(COA8):c.185A>G (p.Tyr62Cys)	COA8 (Y62C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 746625	NM_001370595.2(COA8):c.192C>T (p.Asn64=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity

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