SH3GL1[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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: 38