NOSTRIN[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 154807	GRCh38/hg38 2q24.3(chr2:167995450-168840081)x3	CERS6, CERS6-AS1 +23 more	Copy number gain	See cases	GLikely benign
Select item 721242	NM_001039724.4(NOSTRIN):c.73G>A (p.Glu25Lys)	NOSTRIN (E25K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 767829	NM_001039724.4(NOSTRIN):c.500G>A (p.Arg167Gln)	NOSTRIN (R167Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2276621	NM_001039724.4(NOSTRIN):c.731G>A (p.Cys244Tyr)	NOSTRIN (C166Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390801	NM_001039724.4(NOSTRIN):c.737C>T (p.Thr246Met)	NOSTRIN (T218M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352759	NM_001039724.4(NOSTRIN):c.779A>T (p.Asp260Val)	NOSTRIN (D182V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342866	NM_001039724.4(NOSTRIN):c.818C>T (p.Thr273Ile)	NOSTRIN (T245I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337464	NM_001039724.4(NOSTRIN):c.977T>C (p.Met326Thr)	NOSTRIN (M248T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369372	NM_001039724.4(NOSTRIN):c.1032C>G (p.Asp344Glu)	NOSTRIN (D344E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290735	NM_001039724.4(NOSTRIN):c.1141C>T (p.His381Tyr)	NOSTRIN (H438Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223031	NM_001039724.4(NOSTRIN):c.1159A>G (p.Ile387Val)	NOSTRIN (I387V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790256	NM_001039724.4(NOSTRIN):c.1210C>T (p.Arg404Trp)	NOSTRIN (R326W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783990	NM_001039724.4(NOSTRIN):c.1292C>T (p.Pro431Leu)	NOSTRIN (P431L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2381820	NM_001039724.4(NOSTRIN):c.1306G>A (p.Ala436Thr)	NOSTRIN, SPC25 (A358T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369603	NM_001039724.4(NOSTRIN):c.1333G>T (p.Ala445Ser)	NOSTRIN, SPC25 (A417S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249266	NM_001039724.4(NOSTRIN):c.1405G>A (p.Glu469Lys)	NOSTRIN, SPC25 (E469K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	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 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 493569	GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1	CSRNP3, G6PC2 +16 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442551	GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1	B3GALT1, CERS6 +9 more	Copy number loss	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic

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: 33