ClinVar for Gene (Select 101927051) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318045	NM_018957.6(SH3BP1):c.361A>G (p.Arg121Gly)	PDXP-DT, SH3BP1 (R121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318044	NM_018957.6(SH3BP1):c.1733C>G (p.Pro578Arg)	PDXP-DT, SH3BP1 (P578R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318043	NM_018957.6(SH3BP1):c.1730C>A (p.Pro577His)	PDXP-DT, SH3BP1 (P577H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318042	NM_018957.6(SH3BP1):c.1168C>T (p.Arg390Cys)	PDXP-DT, SH3BP1 (R390C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318041	NM_018957.6(SH3BP1):c.1253T>A (p.Met418Lys)	PDXP-DT, SH3BP1 (M418K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318040	NM_018957.6(SH3BP1):c.1223G>A (p.Arg408Gln)	PDXP-DT, SH3BP1 (R408Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318039	NM_018957.6(SH3BP1):c.1562C>A (p.Pro521Gln)	PDXP-DT, SH3BP1 (P521Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161248	NM_018957.6(SH3BP1):c.880G>A (p.Glu294Lys)	PDXP-DT, SH3BP1 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161246	NM_018957.6(SH3BP1):c.797C>T (p.Thr266Ile)	PDXP-DT, SH3BP1 (T266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161244	NM_018957.6(SH3BP1):c.2065C>T (p.Pro689Ser)	PDXP-DT, SH3BP1 (P689S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161243	NM_018957.6(SH3BP1):c.1901A>G (p.Gln634Arg)	PDXP-DT, SH3BP1 (Q634R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161242	NM_018957.6(SH3BP1):c.1898G>A (p.Arg633His)	PDXP-DT, SH3BP1 (R633H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161241	NM_018957.6(SH3BP1):c.1895G>A (p.Arg632Gln)	PDXP-DT, SH3BP1 (R632Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161240	NM_018957.6(SH3BP1):c.1894C>T (p.Arg632Trp)	PDXP-DT, SH3BP1 (R632W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161237	NM_018957.6(SH3BP1):c.1732C>T (p.Pro578Ser)	PDXP-DT, SH3BP1 (P578S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161236	NM_018957.6(SH3BP1):c.1730C>G (p.Pro577Arg)	PDXP-DT, SH3BP1 (P577R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161235	NM_018957.6(SH3BP1):c.1650T>A (p.Ser550Arg)	PDXP-DT, SH3BP1 (S550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161233	NM_018957.6(SH3BP1):c.1510G>A (p.Val504Met)	PDXP-DT, SH3BP1 (V504M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161232	NM_018957.6(SH3BP1):c.1393G>T (p.Ala465Ser)	PDXP-DT, SH3BP1 (A465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161231	NM_018957.6(SH3BP1):c.1178C>G (p.Pro393Arg)	PDXP-DT, SH3BP1 (P393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161229	NM_018957.6(SH3BP1):c.1139G>A (p.Arg380Gln)	PDXP-DT, SH3BP1 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653117	NM_018957.6(SH3BP1):c.1182G>A (p.Glu394=)	PDXP-DT, SH3BP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617196	NM_018957.6(SH3BP1):c.1897C>T (p.Arg633Cys)	PDXP-DT, SH3BP1 (R633C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549009	NM_018957.6(SH3BP1):c.1400C>G (p.Thr467Ser)	PDXP-DT, SH3BP1 (T467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540214	NM_018957.6(SH3BP1):c.742G>T (p.Ala248Ser)	PDXP-DT, SH3BP1 (A248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519235	NM_018957.6(SH3BP1):c.1776G>C (p.Leu592Phe)	PDXP-DT, SH3BP1 (L592F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459285	NM_018957.6(SH3BP1):c.1135G>C (p.Ala379Pro)	PDXP-DT, SH3BP1 (A379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407603	NM_018957.6(SH3BP1):c.376C>G (p.Pro126Ala)	PDXP-DT, SH3BP1 (P126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404994	NM_018957.6(SH3BP1):c.889G>A (p.Val297Ile)	PDXP-DT, SH3BP1 (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396967	NM_018957.6(SH3BP1):c.860G>A (p.Arg287Gln)	PDXP-DT, SH3BP1 (R287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386356	NM_018957.6(SH3BP1):c.1606T>C (p.Ser536Pro)	PDXP-DT, SH3BP1 (S536P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382896	NM_018957.6(SH3BP1):c.986C>T (p.Ser329Leu)	PDXP-DT, SH3BP1 (S329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360858	NM_018957.6(SH3BP1):c.2083A>T (p.Ser695Cys)	PDXP-DT, SH3BP1 (S695C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335766	NM_018957.6(SH3BP1):c.1346T>C (p.Val449Ala)	PDXP-DT, SH3BP1 (V449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297224	NM_018957.6(SH3BP1):c.1766C>A (p.Ala589Asp)	PDXP-DT, SH3BP1 (A589D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292279	NM_018957.6(SH3BP1):c.796A>G (p.Thr266Ala)	PDXP-DT, SH3BP1 (T266A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286083	NM_018957.6(SH3BP1):c.1511T>C (p.Val504Ala)	PDXP-DT, SH3BP1 (V504A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279386	NM_018957.6(SH3BP1):c.362G>A (p.Arg121Lys)	PDXP-DT, SH3BP1 (R121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278692	NM_018957.6(SH3BP1):c.1700G>A (p.Arg567His)	PDXP-DT, SH3BP1 (R567H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276204	NM_018957.6(SH3BP1):c.1177C>G (p.Pro393Ala)	PDXP-DT, SH3BP1 (P393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266026	NM_018957.6(SH3BP1):c.1742C>T (p.Ser581Phe)	PDXP-DT, SH3BP1 (S581F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253049	NM_018957.6(SH3BP1):c.850G>A (p.Glu284Lys)	PDXP-DT, SH3BP1 (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237053	NM_018957.6(SH3BP1):c.1715G>A (p.Arg572Gln)	PDXP-DT, SH3BP1 (R572Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236678	NM_018957.6(SH3BP1):c.1703C>A (p.Pro568Gln)	PDXP-DT, SH3BP1 (P568Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217330	NM_018957.6(SH3BP1):c.527C>T (p.Pro176Leu)	PDXP-DT, SH3BP1 (P176L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2215071	NM_018957.6(SH3BP1):c.1331T>G (p.Leu444Arg)	PDXP-DT, SH3BP1 (L444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737803	NM_018957.6(SH3BP1):c.1599-9C>T	PDXP-DT, SH3BP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 154588	GRCh38/hg38 22q13.1(chr22:37537317-37803357)x3	CDC42EP1, GGA1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54