27347[Gene ID] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +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 2250483	NM_013233.3(STK39):c.1574G>A (p.Cys525Tyr)	STK39 (C504Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2374383	NM_013233.3(STK39):c.1327G>T (p.Asp443Tyr)	STK39 (D443Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606490	NM_013233.3(STK39):c.1280A>C (p.Gln427Pro)	STK39 (Q427P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321890	NM_013233.3(STK39):c.1031A>G (p.Glu344Gly)	STK39 (E344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299460	NM_013233.3(STK39):c.761C>T (p.Ala254Val)	STK39 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289231	NM_013233.3(STK39):c.514A>G (p.Ile172Val)	STK39 (I172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400990	NM_013233.3(STK39):c.499G>A (p.Ala167Thr)	STK39 (A167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590023	NM_013233.3(STK39):c.467G>A (p.Arg156Gln)	STK39 (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596045	NM_013233.3(STK39):c.163G>A (p.Gly55Ser)	STK39 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277757	NM_013233.3(STK39):c.160G>A (p.Val54Ile)	STK39 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290291	NM_013233.3(STK39):c.158C>T (p.Ala53Val)	STK39 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769262	NM_013233.3(STK39):c.126CCCGGC[5] (p.43PA[5])	STK39	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 786488	NM_013233.3(STK39):c.87G>C (p.Ala29=)	STK39	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569103	NM_013233.3(STK39):c.82C>G (p.Pro28Ala)	STK39 (P28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171423	NM_013233.3(STK39):c.79G>T (p.Ala27Ser)	STK39 (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285610	NM_013233.3(STK39):c.54_69del (p.Pro19fs)	STK39 (P19fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3171422	NM_013233.3(STK39):c.62C>G (p.Thr21Arg)	STK39 (T21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482476	NM_013233.3(STK39):c.36G>C (p.Gln12His)	STK39 (Q12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171421	NM_013233.3(STK39):c.16G>C (p.Gly6Arg)	STK39 (G6R)	Single nucleotide variant (missense variant)	not specified	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 2684864	GRCh37/hg19 2q24.3(chr2:168902389-169010841)x1	STK39	Copy number loss	not provided	GUncertain significance
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	METTL8, PSMD14 +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 979382	GRCh37/hg19 2q24.3(chr2:168619461-168857853)x3	B3GALT1, STK39	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687844	GRCh37/hg19 2q24.3(chr2:168768007-168982598)x1	STK39	Copy number loss	not provided	GUncertain significance
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 686053	GRCh37/hg19 2q24.3(chr2:168720194-168815511)x3	B3GALT1, STK39	Copy number gain	not provided	GUncertain significance
Select item 685235	GRCh37/hg19 2q24.3(chr2:168900871-168981256)x1	STK39	Copy number loss	not provided	GUncertain significance
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 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	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
Select item 442551	GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1	B3GALT1, CERS6 +9 more	Copy number loss	See cases	GPathogenic
Select item 442396	GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1	B3GALT1, COBLL1 +13 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

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Items: 44