22980[HGNC] - ClinVar

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Items: 46

	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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2340643	NM_152679.4(SLC10A4):c.23C>A (p.Thr8Asn)	SLC10A4 (T8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162763	NM_152679.4(SLC10A4):c.34G>T (p.Ala12Ser)	SLC10A4 (A12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412382	NM_152679.4(SLC10A4):c.122G>A (p.Ser41Asn)	SLC10A4 (S41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249024	NM_152679.4(SLC10A4):c.133G>C (p.Gly45Arg)	SLC10A4 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389790	NM_152679.4(SLC10A4):c.149T>C (p.Leu50Pro)	SLC10A4 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249971	NM_152679.4(SLC10A4):c.149T>G (p.Leu50Arg)	SLC10A4 (L50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247304	NM_152679.4(SLC10A4):c.205A>G (p.Thr69Ala)	SLC10A4 (T69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318787	NM_152679.4(SLC10A4):c.284C>A (p.Pro95Gln)	SLC10A4 (P95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305719	NM_152679.4(SLC10A4):c.322T>C (p.Phe108Leu)	SLC10A4 (F108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269381	NM_152679.4(SLC10A4):c.397G>A (p.Val133Ile)	SLC10A4 (V133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162764	NM_152679.4(SLC10A4):c.401G>T (p.Arg134Leu)	SLC10A4 (R134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162765	NM_152679.4(SLC10A4):c.472G>A (p.Ala158Thr)	SLC10A4 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162766	NM_152679.4(SLC10A4):c.557T>A (p.Met186Lys)	SLC10A4 (M186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162767	NM_152679.4(SLC10A4):c.709G>C (p.Val237Leu)	SLC10A4 (V237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312514	NM_152679.4(SLC10A4):c.709G>A (p.Val237Met)	SLC10A4 (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488918	NM_152679.4(SLC10A4):c.764G>A (p.Arg255His)	SLC10A4 (R255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336440	NM_152679.4(SLC10A4):c.766T>C (p.Tyr256His)	SLC10A4 (Y256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268820	NM_152679.4(SLC10A4):c.853G>A (p.Gly285Ser)	SLC10A4 (G285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162768	NM_152679.4(SLC10A4):c.898G>A (p.Val300Ile)	SLC10A4 (V300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406886	NM_152679.4(SLC10A4):c.940T>A (p.Ser314Thr)	SLC10A4 (S314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389777	NM_152679.4(SLC10A4):c.976C>T (p.Pro326Ser)	SLC10A4 (P326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162761	NM_152679.4(SLC10A4):c.1034C>T (p.Thr345Ile)	SLC10A4 (T345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260150	NM_152679.4(SLC10A4):c.1145A>G (p.Tyr382Cys)	SLC10A4 (Y382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318788	NM_152679.4(SLC10A4):c.1156G>A (p.Gly386Arg)	SLC10A4 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162762	NM_152679.4(SLC10A4):c.1165A>G (p.Met389Val)	SLC10A4 (M389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624231	NM_152679.4(SLC10A4):c.1189G>C (p.Asp397His)	SLC10A4 (D397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318786	NM_152679.4(SLC10A4):c.1253C>T (p.Ser418Phe)	SLC10A4 (S418F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318785	NM_152679.4(SLC10A4):c.1297G>A (p.Ala433Thr)	SLC10A4 (A433T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685966	GRCh37/hg19 4p11(chr4:48480855-49089361)x3	CWH43, FRYL +4 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	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)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +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: 46