11316[HGNC] - ClinVar

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Items: 41

	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 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 151403	GRCh38/hg38 2q31.1(chr2:169788598-169877259)x3	LOC129935075, LOC129935076 +5 more	Copy number gain	See cases	GLikely benign
Select item 785015	NM_003142.5(SSB):c.12T>C (p.Asn4=)	SSB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219624	NM_003142.5(SSB):c.35C>T (p.Ala12Val)	SSB (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294861	NM_003142.5(SSB):c.116A>G (p.Gln39Arg)	SSB (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170295	NM_003142.5(SSB):c.127G>C (p.Asp43His)	SSB (D43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170296	NM_003142.5(SSB):c.240G>C (p.Met80Ile)	SSB (M80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365780	NM_003142.5(SSB):c.280A>T (p.Ser94Cys)	SSB (S94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516685	NM_003142.5(SSB):c.343A>G (p.Ile115Val)	SSB (I115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264242	NM_003142.5(SSB):c.362A>C (p.Asp121Ala)	SSB (D121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170297	NM_003142.5(SSB):c.379A>C (p.Ile127Leu)	SSB (I127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404414	NM_003142.5(SSB):c.559G>A (p.Asp187Asn)	SSB (D187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252054	NM_003142.5(SSB):c.654A>C (p.Glu218Asp)	SSB (E218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347704	NM_003142.5(SSB):c.657A>T (p.Glu219Asp)	SSB (E219D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347705	NM_003142.5(SSB):c.659A>C (p.Asp220Ala)	SSB (D220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611341	NM_003142.5(SSB):c.684A>C (p.Glu228Asp)	SSB (E228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261805	NM_003142.5(SSB):c.710C>T (p.Ser237Leu)	SSB (S237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170298	NM_003142.5(SSB):c.793G>A (p.Val265Ile)	SSB (V265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322770	NM_003142.5(SSB):c.865G>A (p.Ala289Thr)	SSB (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491990	NM_003142.5(SSB):c.1000C>G (p.Arg334Gly)	SSB (R334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521953	NM_003142.5(SSB):c.1085C>T (p.Thr362Met)	SSB (T362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341507	NM_003142.5(SSB):c.1108CATGATGAA[1] (p.370HDE[1])	SSB	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3322773	NM_003142.5(SSB):c.1108C>A (p.His370Asn)	SSB (H370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322774	NM_003142.5(SSB):c.1114G>C (p.Glu372Gln)	SSB (E372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	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 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 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
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 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: 41