57545[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2081

<< First< Prev

Page of 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 1321482	NC_000004.12:g.15469808T>C	CC2D2A	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 347750	NM_001378615.1(CC2D2A):c.-178T>C	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 6 +2 more	GUncertain significance
Select item 899750	NM_001378615.1(CC2D2A):c.-87G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 6 +1 more	GConflicting classifications of pathogenicity
Select item 899751	NM_001378615.1(CC2D2A):c.-47G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 9 +1 more	GUncertain significance
Select item 126226	NM_001378615.1(CC2D2A):c.-19+37G>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347751	NM_001378615.1(CC2D2A):c.-18-2673G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 6 +3 more	GConflicting classifications of pathogenicity
Select item 1178118	NM_001378615.1(CC2D2A):c.-18-2543C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238142	NM_001378615.1(CC2D2A):c.-18-2439A>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688722	NM_001378615.1(CC2D2A):c.-18-2263T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990970	NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)	CC2D2A (N2S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 593657	NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr)	CC2D2A (P3T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 347752	NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)	CC2D2A (R4G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 2950229	NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2944684	NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)	CC2D2A (E6*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2943732	NM_001378615.1(CC2D2A):c.28del (p.Lys9_Ile10insTer)	CC2D2A	Deletion (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2949043	NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter)	CC2D2A (K9*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2926082	NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs)	CC2D2A (T12fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1999416	NM_001378615.1(CC2D2A):c.39+6T>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1104472	NM_001378615.1(CC2D2A):c.39+7G>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1636700	NM_001378615.1(CC2D2A):c.39+8G>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2938529	NM_001378615.1(CC2D2A):c.39+10C>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1617212	NM_001378615.1(CC2D2A):c.39+13_39+15dup	CC2D2A	Duplication (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2949354	NM_001378615.1(CC2D2A):c.39+16G>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2952727	NM_001378615.1(CC2D2A):c.39+20T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 678280	NM_001378615.1(CC2D2A):c.39+217C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668061	NM_001378615.1(CC2D2A):c.40-274T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179518	NM_001378615.1(CC2D2A):c.40-179A>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192540	NM_001378615.1(CC2D2A):c.40-122A>C	CC2D2A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2934005	NM_001378615.1(CC2D2A):c.40-18T>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2928572	NM_001378615.1(CC2D2A):c.40-13C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2054339	NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys)	CC2D2A (E14K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 417568	NC_000004.12:g.(?_15478723)_(15480827_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1098110	NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950051	NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2943170	NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1464531	NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His)	CC2D2A (D19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 969124	NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)	CC2D2A (D19V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 962423	NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)	CC2D2A (E20K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 817142	NM_001378615.1(CC2D2A):c.62delinsTC (p.Asp21fs)	CC2D2A (D21fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1640103	NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2938787	NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs)	CC2D2A (R26fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2927618	NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)	CC2D2A (Q27*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2929899	NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1515318	NM_001378615.1(CC2D2A):c.97G>A (p.Val33Ile)	CC2D2A (V33I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 377067	NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)	CC2D2A (R34*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 498107	NM_001378615.1(CC2D2A):c.101G>A (p.Arg34Gln)	CC2D2A (R34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289830	NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2929358	NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1382501	NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys)	CC2D2A (R38K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2616661	NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)	CC2D2A (K40T)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 2085756	NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg)	CC2D2A (K40R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1456425	NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)	CC2D2A (Q41*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2950749	NM_001378615.1(CC2D2A):c.123+2T>G	CC2D2A	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2923036	NM_001378615.1(CC2D2A):c.123+9T>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1131429	NM_001378615.1(CC2D2A):c.123+12C>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1912996	NM_001378615.1(CC2D2A):c.123+16A>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1149080	NM_001378615.1(CC2D2A):c.123+19C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1631421	NM_001378615.1(CC2D2A):c.123+23_123+24del	CC2D2A	Microsatellite (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1275719	NM_001378615.1(CC2D2A):c.123+52G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197767	NM_001378615.1(CC2D2A):c.123+132G>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242983	NM_001378615.1(CC2D2A):c.123+235T>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031321	NM_001378615.1(CC2D2A):c.123+440C>T	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 2688724	NM_001378615.1(CC2D2A):c.123+470A>G	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2654680	NM_001378615.1(CC2D2A):c.123+476T>C	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2654681	NM_001378615.1(CC2D2A):c.123+483C>T	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3049315	NM_001378615.1(CC2D2A):c.123+528T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 1193832	NM_001378615.1(CC2D2A):c.123+654C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225044	NM_001378615.1(CC2D2A):c.123+679G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180090	NM_001378615.1(CC2D2A):c.124-252C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1147129	NM_001378615.1(CC2D2A):c.124-18C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2937837	NM_001378615.1(CC2D2A):c.124-14C>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2094260	NM_001378615.1(CC2D2A):c.124-9_124-7del	CC2D2A	Microsatellite (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1996610	NM_001378615.1(CC2D2A):c.124-13C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2931009	NM_001378615.1(CC2D2A):c.124-9T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 93531	NM_001378615.1(CC2D2A):c.124-6C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 1935783	NM_001378615.1(CC2D2A):c.124-1G>C	CC2D2A	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 1993837	NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala)	CC2D2A (N79S +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1426991	NM_001378615.1(CC2D2A):c.149T>C (p.Met50Thr)	CC2D2A (M50T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance

<< First< Prev

Page of 21