SSBP2[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 2544511	NM_001256732.3(SSBP2):c.991A>G (p.Asn331Asp)	SSBP2 (N272D +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 994110	NM_001256732.3(SSBP2):c.971G>C (p.Ser324Thr)	SSBP2 (S286T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356075	NM_001256732.3(SSBP2):c.962A>G (p.Asp321Gly)	SSBP2 (D209G +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605187	NM_001256732.3(SSBP2):c.830A>G (p.Tyr277Cys)	SSBP2 (Y143C +21 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344442	NM_001256732.3(SSBP2):c.745G>A (p.Val249Ile)	SSBP2 (V123I +17 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 161664	NM_001256732.3(SSBP2):c.743A>T (p.Tyr248Phe)	SSBP2 (Y240F +5 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3170301	NM_001256732.3(SSBP2):c.674G>A (p.Gly225Asp)	SSBP2 (G105D +17 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532897	NM_001256732.3(SSBP2):c.565C>T (p.Pro189Ser)	SSBP2 (P110S +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 373289	NM_001256732.3(SSBP2):c.152dup (p.Asn51fs)	SSBP2 (N51fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2359960	NM_001256732.3(SSBP2):c.112T>G (p.Ser38Ala)	SSBP2 (S34A +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2256301	NM_001256732.3(SSBP2):c.91C>T (p.Leu31Phe)	SSBP2 (L27F +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2243605	NM_001256732.3(SSBP2):c.34G>A (p.Val12Ile)	SSBP2 (V12I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance

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: 21