SSBP4[gene] - ClinVar

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

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 2558815	NM_032627.5(SSBP4):c.13G>C (p.Gly5Arg)	LOC130064002, SSBP4 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512793	NM_032627.5(SSBP4):c.17G>C (p.Gly6Ala)	LOC130064002, SSBP4 (G6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170309	NM_032627.5(SSBP4):c.57G>C (p.Glu19Asp)	LOC130064002, SSBP4 (E19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339845	NM_032627.5(SSBP4):c.104A>G (p.Gln35Arg)	SSBP4 (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559604	NM_032627.5(SSBP4):c.292G>A (p.Ala98Thr)	SSBP4 (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508359	NM_032627.5(SSBP4):c.349A>G (p.Met117Val)	SSBP4 (M117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595289	NM_032627.5(SSBP4):c.350T>C (p.Met117Thr)	SSBP4 (M117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205607	NM_032627.5(SSBP4):c.353C>T (p.Ala118Val)	SSBP4 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344152	NM_032627.5(SSBP4):c.425C>T (p.Pro142Leu)	SSBP4 (P142L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464262	NM_032627.5(SSBP4):c.449C>T (p.Pro150Leu)	SSBP4 (P128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356573	NM_032627.5(SSBP4):c.451C>T (p.Arg151Cys)	SSBP4 (R151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322778	NM_032627.5(SSBP4):c.469C>T (p.Arg157Trp)	SSBP4 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483109	NM_032627.5(SSBP4):c.482G>T (p.Arg161Leu)	SSBP4 (R139L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281162	NM_032627.5(SSBP4):c.497C>T (p.Pro166Leu)	SSBP4 (P166L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170308	NM_032627.5(SSBP4):c.502G>A (p.Ala168Thr)	SSBP4 (A146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410172	NM_032627.5(SSBP4):c.502G>T (p.Ala168Ser)	SSBP4 (A146S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474204	NM_032627.5(SSBP4):c.529C>G (p.Leu177Val)	SSBP4 (L155V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384444	NM_032627.5(SSBP4):c.557G>C (p.Arg186Pro)	SSBP4 (R186P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520304	NM_032627.5(SSBP4):c.583G>A (p.Gly195Ser)	SSBP4 (G173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510200	NM_032627.5(SSBP4):c.589A>G (p.Met197Val)	SSBP4 (M197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170310	NM_032627.5(SSBP4):c.602C>T (p.Thr201Met)	SSBP4 (T201M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170311	NM_032627.5(SSBP4):c.610C>T (p.Arg204Cys)	SSBP4 (R204C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303008	NM_032627.5(SSBP4):c.620C>T (p.Ala207Val)	SSBP4 (A185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383344	NM_032627.5(SSBP4):c.641A>G (p.Tyr214Cys)	SSBP4 (Y192C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170312	NM_032627.5(SSBP4):c.653T>C (p.Met218Thr)	SSBP4 (M196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322781	NM_032627.5(SSBP4):c.683C>G (p.Pro228Arg)	SSBP4 (P228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292462	NM_032627.5(SSBP4):c.706G>A (p.Gly236Ser)	SSBP4 (G236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228299	NM_032627.5(SSBP4):c.713G>C (p.Gly238Ala)	SSBP4 (G216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322780	NM_032627.5(SSBP4):c.773C>G (p.Pro258Arg)	SSBP4 (P258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481821	NM_032627.5(SSBP4):c.793C>T (p.Pro265Ser)	SSBP4 (P265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534987	NM_032627.5(SSBP4):c.821C>A (p.Pro274His)	SSBP4 (P252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617579	NM_032627.5(SSBP4):c.839G>A (p.Gly280Glu)	SSBP4 (G258E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219455	NM_032627.5(SSBP4):c.858C>G (p.Ser286Arg)	SSBP4 (S264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322779	NM_032627.5(SSBP4):c.867G>A (p.Met289Ile)	SSBP4 (M267I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461807	NM_032627.5(SSBP4):c.890G>A (p.Gly297Glu)	SSBP4 (G275E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170306	NM_032627.5(SSBP4):c.1025C>T (p.Ser342Phe)	SSBP4 (S320F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481454	NM_032627.5(SSBP4):c.1075G>A (p.Asp359Asn)	LOC130064007, SSBP4 (D337N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170307	NM_032627.5(SSBP4):c.1097G>T (p.Gly366Val)	LOC130064007, SSBP4 (G366V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232926	NM_032627.5(SSBP4):c.1152C>A (p.Ser384Arg)	SSBP4 (S362R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1526658	GRCh37/hg19 19p13.11(chr19:18327675-18543341)	GDF15, IQCN +6 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 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

Search results

Items: 50