10463[geneid] - ClinVar

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Items: 48

	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 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 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 1242979	NM_006345.4(SLC30A9):c.9C>G (p.Pro3=)	SLC30A9	Single nucleotide variant (synonymous variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more	GBenign
Select item 1690850	NM_006345.4(SLC30A9):c.33C>G (p.His11Gln)	SLC30A9 (H11Q)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1300159	NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	SLC30A9 (S14fs)	Deletion (frameshift variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3053487	NM_006345.4(SLC30A9):c.51C>T (p.Ser17=)	SLC30A9	Single nucleotide variant (synonymous variant)	SLC30A9-related disorder	GLikely benign
Select item 3057157	NM_006345.4(SLC30A9):c.84G>C (p.Ala28=)	SLC30A9	Single nucleotide variant (synonymous variant)	SLC30A9-related disorder	GBenign
Select item 1300169	NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)	SLC30A9 (C30fs)	Duplication (frameshift variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1333130	NM_006345.4(SLC30A9):c.148A>G (p.Met50Val)	SLC30A9 (M50V)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 2377954	NM_006345.4(SLC30A9):c.178A>T (p.Thr60Ser)	SLC30A9 (T60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056829	NM_006345.4(SLC30A9):c.252A>T (p.Glu84Asp)	SLC30A9 (E84D)	Single nucleotide variant (missense variant)	SLC30A9-related disorder	GBenign
Select item 1333131	NM_006345.4(SLC30A9):c.274+38C>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333132	NM_006345.4(SLC30A9):c.289A>G (p.Thr97Ala)	SLC30A9 (T97A)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333133	NM_006345.4(SLC30A9):c.366C>A (p.Gly122=)	SLC30A9	Single nucleotide variant (synonymous variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333134	NM_006345.4(SLC30A9):c.527+35A>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1723220	NM_006345.4(SLC30A9):c.543G>A (p.Trp181Ter)	SLC30A9 (W181*)	Single nucleotide variant (nonsense)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 2663048	NM_006345.4(SLC30A9):c.638G>A (p.Arg213Lys)	SLC30A9 (R213K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535051	NM_006345.4(SLC30A9):c.752G>T (p.Cys251Phe)	SLC30A9 (C251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333196	NM_006345.4(SLC30A9):c.840+1G>A	SLC30A9	Single nucleotide variant (splice donor variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 3164272	NM_006345.4(SLC30A9):c.846A>T (p.Leu282Phe)	SLC30A9 (L282F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264745	NM_006345.4(SLC30A9):c.857G>A (p.Gly286Asp)	SLC30A9 (G286D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364362	NM_006345.4(SLC30A9):c.916C>T (p.Arg306Cys)	SLC30A9 (R306C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878602	NM_006345.4(SLC30A9):c.947G>A (p.Gly316Asp)	SLC30A9 (G316D)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GUncertain significance
Select item 2208277	NM_006345.4(SLC30A9):c.1016T>C (p.Ile339Thr)	SLC30A9 (I339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 431049	NM_006345.4(SLC30A9):c.1049_1051del (p.Ala350del)	SLC30A9 (A350del)	Deletion (inframe_deletion)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GPathogenic
Select item 3061863	NM_006345.4(SLC30A9):c.1145-8A>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GUncertain significance
Select item 2367446	NM_006345.4(SLC30A9):c.1246A>G (p.Ile416Val)	SLC30A9 (I416V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164270	NM_006345.4(SLC30A9):c.1306A>G (p.Met436Val)	SLC30A9 (M436V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2570347	NM_006345.4(SLC30A9):c.1331C>G (p.Thr444Ser)	SLC30A9 (T444S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164271	NM_006345.4(SLC30A9):c.1343C>T (p.Ala448Val)	SLC30A9 (A448V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589133	NM_006345.4(SLC30A9):c.1365G>C (p.Gln455His)	SLC30A9 (Q455H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262580	NM_006345.4(SLC30A9):c.1381C>T (p.Arg461Trp)	SLC30A9 (R461W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662972	NM_006345.4(SLC30A9):c.1432G>A (p.Val478Ile)	SLC30A9 (V478I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 48