6455[geneid] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 3067189	NM_003025.4(SH3GL1):c.1101G>A (p.Pro367=)	SH3GL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773078	NM_003025.4(SH3GL1):c.1065C>T (p.Phe355=)	SH3GL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349540	NM_003025.4(SH3GL1):c.994G>A (p.Val332Ile)	SH3GL1 (V332I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511906	NM_003025.4(SH3GL1):c.967G>A (p.Gly323Arg)	SH3GL1 (G275R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381238	NM_003025.4(SH3GL1):c.952G>C (p.Glu318Gln)	SH3GL1 (E254Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1273325	NM_003025.4(SH3GL1):c.911-200_911-199del	SH3GL1	Deletion (intron variant)	not provided	GBenign
Select item 2369360	NM_003025.4(SH3GL1):c.890G>A (p.Arg297Gln)	SH3GL1 (R297Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458364	NM_003025.4(SH3GL1):c.877G>A (p.Asp293Asn)	SH3GL1 (D229N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570343	NM_003025.4(SH3GL1):c.869G>A (p.Arg290Gln)	SH3GL1 (R226Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305718	NM_003025.4(SH3GL1):c.869G>C (p.Arg290Pro)	SH3GL1 (R242P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604086	NM_003025.4(SH3GL1):c.845A>G (p.Lys282Arg)	SH3GL1 (K282R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492890	NM_003025.4(SH3GL1):c.838G>A (p.Ala280Thr)	SH3GL1 (A232T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1238058	NM_003025.4(SH3GL1):c.771C>G (p.Pro257=)	SH3GL1	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia +1 more	GBenign
Select item 2296803	NM_003025.4(SH3GL1):c.730A>T (p.Met244Leu)	SH3GL1 (M196L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1222997	NM_003025.4(SH3GL1):c.728+197C>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266548	NM_003025.4(SH3GL1):c.728+78G>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2359228	NM_003025.4(SH3GL1):c.688G>A (p.Val230Met)	SH3GL1 (V230M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408299	NM_003025.4(SH3GL1):c.680G>A (p.Arg227Gln)	SH3GL1 (R163Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1273075	NM_003025.4(SH3GL1):c.625-96_625-95del	SH3GL1	Microsatellite (intron variant)	not provided	GBenign
Select item 2552165	NM_003025.4(SH3GL1):c.547C>A (p.Leu183Ile)	SH3GL1 (L183I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257430	NM_003025.4(SH3GL1):c.331+82A>G	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2285034	NM_003025.4(SH3GL1):c.319G>A (p.Glu107Lys)	SH3GL1 (E107K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555834	NM_003025.4(SH3GL1):c.316G>A (p.Gly106Ser)	SH3GL1 (G106S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590095	NM_003025.4(SH3GL1):c.289A>C (p.Met97Leu)	SH3GL1 (M97L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780502	NM_003025.4(SH3GL1):c.222G>A (p.Val74=)	SH3GL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2281803	NM_003025.4(SH3GL1):c.215A>G (p.Asn72Ser)	SH3GL1 (N72S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1245593	NM_003025.4(SH3GL1):c.187+279T>C	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2375987	NM_003025.4(SH3GL1):c.137C>T (p.Ala46Val)	SH3GL1 (A46V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259762	NM_003025.4(SH3GL1):c.45+7G>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3062397	GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1	CHAF1A, DPP9 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 52