6455[geneid] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +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	PIP5K1C, PLIN4 +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 3318085	NM_003025.4(SH3GL1):c.1001C>T (p.Thr334Met)	SH3GL1 (T270M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349540	NM_003025.4(SH3GL1):c.994G>A (p.Val332Ile)	SH3GL1 (V332I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511906	NM_003025.4(SH3GL1):c.967G>A (p.Gly323Arg)	SH3GL1 (G275R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381238	NM_003025.4(SH3GL1):c.952G>C (p.Glu318Gln)	SH3GL1 (E254Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273325	NM_003025.4(SH3GL1):c.911-200_911-199del	SH3GL1	Deletion (intron variant)	not provided	GBenign
Select item 3161308	NM_003025.4(SH3GL1):c.901C>T (p.Arg301Trp)	SH3GL1 (R237W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369360	NM_003025.4(SH3GL1):c.890G>A (p.Arg297Gln)	SH3GL1 (R297Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458364	NM_003025.4(SH3GL1):c.877G>A (p.Asp293Asn)	SH3GL1 (D229N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570343	NM_003025.4(SH3GL1):c.869G>A (p.Arg290Gln)	SH3GL1 (R226Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305718	NM_003025.4(SH3GL1):c.869G>C (p.Arg290Pro)	SH3GL1 (R242P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604086	NM_003025.4(SH3GL1):c.845A>G (p.Lys282Arg)	SH3GL1 (K282R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492890	NM_003025.4(SH3GL1):c.838G>A (p.Ala280Thr)	SH3GL1 (A232T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161307	NM_003025.4(SH3GL1):c.810G>C (p.Gln270His)	SH3GL1 (Q206H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161306	NM_003025.4(SH3GL1):c.778C>T (p.Arg260Trp)	SH3GL1 (R212W +2 more)	Single nucleotide variant (missense variant)	not specified	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 3318083	NM_003025.4(SH3GL1):c.758G>A (p.Arg253Gln)	SH3GL1 (R189Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296803	NM_003025.4(SH3GL1):c.730A>T (p.Met244Leu)	SH3GL1 (M196L +2 more)	Single nucleotide variant (missense variant)	not specified	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 3161305	NM_003025.4(SH3GL1):c.724C>T (p.Arg242Cys)	SH3GL1 (R178C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359228	NM_003025.4(SH3GL1):c.688G>A (p.Val230Met)	SH3GL1 (V230M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161304	NM_003025.4(SH3GL1):c.682C>G (p.Gln228Glu)	SH3GL1 (Q164E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408299	NM_003025.4(SH3GL1):c.680G>A (p.Arg227Gln)	SH3GL1 (R163Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273075	NM_003025.4(SH3GL1):c.625-96_625-95del	SH3GL1	Microsatellite (intron variant)	not provided	GBenign
Select item 3318084	NM_003025.4(SH3GL1):c.610C>T (p.Leu204Phe)	SH3GL1 (L140F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552165	NM_003025.4(SH3GL1):c.547C>A (p.Leu183Ile)	SH3GL1 (L183I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257430	NM_003025.4(SH3GL1):c.331+82A>G	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3161303	NM_003025.4(SH3GL1):c.321G>C (p.Glu107Asp)	SH3GL1 (E107D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285034	NM_003025.4(SH3GL1):c.319G>A (p.Glu107Lys)	SH3GL1 (E107K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555834	NM_003025.4(SH3GL1):c.316G>A (p.Gly106Ser)	SH3GL1 (G106S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590095	NM_003025.4(SH3GL1):c.289A>C (p.Met97Leu)	SH3GL1 (M97L)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 1259762	NM_003025.4(SH3GL1):c.45+7G>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
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	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62