ClinVar for Gene (Select 9467) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318063	NM_004844.5(SH3BP5):c.681G>C (p.Lys227Asn)	SH3BP5, SH3BP5-AS1 (K227N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318062	NM_004844.5(SH3BP5):c.755T>C (p.Met252Thr)	SH3BP5, SH3BP5-AS1 (M252T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318061	NM_004844.5(SH3BP5):c.446G>A (p.Arg149Gln)	LOC126806617, SH3BP5 (R149Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3318060	NM_004844.5(SH3BP5):c.782G>A (p.Arg261Gln)	SH3BP5, SH3BP5-AS1 (R104Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318059	NM_004844.5(SH3BP5):c.1289G>A (p.Arg430Gln)	SH3BP5, SH3BP5-AS1 (R430Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3161277	NM_004844.5(SH3BP5):c.956A>G (p.Gln319Arg)	SH3BP5, SH3BP5-AS1 (Q162R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161276	NM_004844.5(SH3BP5):c.922A>G (p.Ser308Gly)	SH3BP5, SH3BP5-AS1 (S151G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161275	NM_004844.5(SH3BP5):c.618C>G (p.Asn206Lys)	SH3BP5, SH3BP5-AS1 (N49K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161274	NM_004844.5(SH3BP5):c.536T>C (p.Val179Ala)	SH3BP5, SH3BP5-AS1 (V179A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161273	NM_004844.5(SH3BP5):c.472A>C (p.Met158Leu)	LOC126806617, SH3BP5 (M158L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161272	NM_004844.5(SH3BP5):c.262G>A (p.Val88Met)	SH3BP5 (V88M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161271	NM_004844.5(SH3BP5):c.1201A>C (p.Asn401His)	SH3BP5, SH3BP5-AS1 (N244H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161270	NM_004844.5(SH3BP5):c.1181C>G (p.Thr394Arg)	SH3BP5, SH3BP5-AS1 (T237R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3027357	NM_004844.5(SH3BP5):c.932del (p.Val311fs)	SH3BP5, SH3BP5-AS1 (V154fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2594199	NM_004844.5(SH3BP5):c.209G>A (p.Arg70His)	SH3BP5 (R70H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539684	NM_004844.5(SH3BP5):c.589C>G (p.Leu197Val)	SH3BP5, SH3BP5-AS1 (L197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539682	NM_004844.5(SH3BP5):c.314G>A (p.Arg105Gln)	SH3BP5 (R105Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2526738	NM_004844.5(SH3BP5):c.578G>A (p.Arg193His)	SH3BP5, SH3BP5-AS1 (R193H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487918	NM_004844.5(SH3BP5):c.1325G>A (p.Arg442Lys)	SH3BP5, SH3BP5-AS1 (R285K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467018	NM_004844.5(SH3BP5):c.319G>A (p.Val107Met)	SH3BP5 (V107M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2457318	NM_004844.5(SH3BP5):c.1208G>C (p.Gly403Ala)	SH3BP5, SH3BP5-AS1 (G403A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2402574	NM_004844.5(SH3BP5):c.445C>T (p.Arg149Trp)	LOC126806617, SH3BP5 (R149W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2362020	NM_004844.5(SH3BP5):c.1280T>G (p.Leu427Trp)	SH3BP5, SH3BP5-AS1 (L270W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356687	NM_004844.5(SH3BP5):c.41C>T (p.Ala14Val)	LOC129936272, SH3BP5 (A14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348976	NM_004844.5(SH3BP5):c.191C>T (p.Thr64Ile)	SH3BP5 (T64I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332957	NM_004844.5(SH3BP5):c.563A>G (p.Asn188Ser)	SH3BP5, SH3BP5-AS1 (N188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290111	NM_004844.5(SH3BP5):c.644A>C (p.Lys215Thr)	SH3BP5, SH3BP5-AS1 (K215T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2283706	NM_004844.5(SH3BP5):c.695T>G (p.Leu232Arg)	SH3BP5, SH3BP5-AS1 (L75R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2271550	NM_004844.5(SH3BP5):c.59C>T (p.Ala20Val)	LOC129936272, SH3BP5 (A20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253693	NM_004844.5(SH3BP5):c.688G>A (p.Asp230Asn)	SH3BP5, SH3BP5-AS1 (D230N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2245472	NM_004844.5(SH3BP5):c.974G>A (p.Ser325Asn)	SH3BP5, SH3BP5-AS1 (S325N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 775849	NM_004844.5(SH3BP5):c.1151-3T>C	SH3BP5, SH3BP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 735908	NM_004844.5(SH3BP5):c.1151-40_1164del	SH3BP5, SH3BP5-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 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

Links from Gene

Items: 56