HS1BP3[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 2521261	NM_022460.4(HS1BP3):c.1133T>C (p.Ile378Thr)	HS1BP3 (I378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536291	NM_022460.4(HS1BP3):c.1125G>T (p.Leu375Phe)	HS1BP3 (L375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487201	NM_022460.4(HS1BP3):c.1114A>T (p.Met372Leu)	HS1BP3 (M372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650702	NM_022460.4(HS1BP3):c.1110C>T (p.Asp370=)	HS1BP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650703	NM_022460.4(HS1BP3):c.1044C>A (p.Pro348=)	HS1BP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622042	NM_022460.4(HS1BP3):c.925G>A (p.Glu309Lys)	HS1BP3 (E309K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545891	NM_022460.4(HS1BP3):c.900C>A (p.Asp300Glu)	HS1BP3 (D300E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106980	NM_022460.4(HS1BP3):c.881C>T (p.Pro294Leu)	HS1BP3 (P294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333076	NM_022460.4(HS1BP3):c.862G>A (p.Glu288Lys)	HS1BP3 (E288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286140	NM_022460.4(HS1BP3):c.856G>A (p.Ala286Thr)	HS1BP3 (A286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358654	NM_022460.4(HS1BP3):c.851C>T (p.Pro284Leu)	HS1BP3 (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106978	NM_022460.4(HS1BP3):c.830T>C (p.Leu277Pro)	HS1BP3 (L277P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516145	NM_022460.4(HS1BP3):c.814G>A (p.Gly272Ser)	HS1BP3 (G272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106977	NM_022460.4(HS1BP3):c.698A>G (p.Glu233Gly)	HS1BP3 (E233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106976	NM_022460.4(HS1BP3):c.697G>A (p.Glu233Lys)	HS1BP3 (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650704	NM_022460.4(HS1BP3):c.674C>T (p.Ser225Leu)	HS1BP3 (S225L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 808674	NM_022460.4(HS1BP3):c.671C>T (p.Pro224Leu)	HS1BP3 (P224L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2376259	NM_022460.4(HS1BP3):c.663A>C (p.Lys221Asn)	HS1BP3 (K221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358406	NM_022460.4(HS1BP3):c.635C>A (p.Pro212His)	HS1BP3 (P212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269534	NM_022460.4(HS1BP3):c.568G>A (p.Asp190Asn)	HS1BP3 (D190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344959	NM_022460.4(HS1BP3):c.542C>T (p.Pro181Leu)	HS1BP3 (P181L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232873	NM_022460.4(HS1BP3):c.358T>A (p.Ser120Thr)	HS1BP3 (S120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471866	NM_022460.4(HS1BP3):c.350G>A (p.Arg117His)	HS1BP3 (R117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650705	NM_022460.4(HS1BP3):c.316C>T (p.Arg106Trp)	HS1BP3 (R106W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390346	NM_022460.4(HS1BP3):c.313A>T (p.Ile105Phe)	HS1BP3 (I105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472237	NM_022460.4(HS1BP3):c.289G>T (p.Val97Phe)	HS1BP3 (V97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617224	NM_022460.4(HS1BP3):c.281C>A (p.Pro94His)	HS1BP3 (P94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106973	NM_022460.4(HS1BP3):c.275C>G (p.Pro92Arg)	HS1BP3 (P92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543920	NM_022460.4(HS1BP3):c.256G>A (p.Ala86Thr)	HS1BP3 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214502	NM_022460.4(HS1BP3):c.206A>C (p.Lys69Thr)	HS1BP3 (K69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284795	NM_022460.4(HS1BP3):c.187G>A (p.Val63Ile)	HS1BP3 (V63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297986	NM_022460.4(HS1BP3):c.164C>T (p.Ala55Val)	HS1BP3 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284793	NM_022460.4(HS1BP3):c.145C>G (p.Leu49Val)	HS1BP3 (L49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284794	NM_022460.4(HS1BP3):c.143G>A (p.Arg48His)	HS1BP3 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309006	NM_022460.4(HS1BP3):c.127A>T (p.Ile43Phe)	HS1BP3 (I43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106972	NM_022460.4(HS1BP3):c.115G>A (p.Val39Met)	HS1BP3 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300258	NM_022460.4(HS1BP3):c.91C>T (p.Arg31Trp)	HS1BP3 (R31W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360035	NM_022460.4(HS1BP3):c.85G>A (p.Glu29Lys)	HS1BP3 (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106975	NM_022460.4(HS1BP3):c.63C>A (p.Asp21Glu)	HS1BP3 (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336099	NM_022460.4(HS1BP3):c.43A>G (p.Asn15Asp)	HS1BP3 (N15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341733	NM_022460.4(HS1BP3):c.35G>A (p.Arg12Gln)	HS1BP3 (R12Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650706	NM_022460.4(HS1BP3):c.31A>G (p.Arg11Gly)	HS1BP3 (R11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 60