SH3BP5-AS1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
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 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 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 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 31