28316[HGNC] - ClinVar

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Items: 30

	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 2267244	NM_001008489.4(PHOSPHO2):c.5A>G (p.Lys2Arg)	PHOSPHO2, PHOSPHO2-KLHL23 (K2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570028	NM_001008489.4(PHOSPHO2):c.37A>G (p.Ile13Val)	PHOSPHO2, PHOSPHO2-KLHL23 (I13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516716	NM_001008489.4(PHOSPHO2):c.50A>G (p.Asn17Ser)	PHOSPHO2, PHOSPHO2-KLHL23 (N17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373686	NM_001008489.4(PHOSPHO2):c.224C>A (p.Thr75Asn)	PHOSPHO2, PHOSPHO2-KLHL23 (T75N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459397	NM_001008489.4(PHOSPHO2):c.232A>G (p.Met78Val)	PHOSPHO2, PHOSPHO2-KLHL23 (M78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471883	NM_001008489.4(PHOSPHO2):c.295G>T (p.Asp99Tyr)	PHOSPHO2, PHOSPHO2-KLHL23 (D99Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284719	NM_001008489.4(PHOSPHO2):c.305C>T (p.Ser102Leu)	PHOSPHO2, PHOSPHO2-KLHL23 (S102L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402602	NM_001008489.4(PHOSPHO2):c.338G>A (p.Ser113Asn)	PHOSPHO2, PHOSPHO2-KLHL23 (S113N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2298074	NM_001008489.4(PHOSPHO2):c.490C>G (p.Gln164Glu)	PHOSPHO2, PHOSPHO2-KLHL23 (Q164E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557204	NM_001008489.4(PHOSPHO2):c.530T>C (p.Ile177Thr)	PHOSPHO2, PHOSPHO2-KLHL23 (I177T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326575	NM_001008489.4(PHOSPHO2):c.711T>G (p.Phe237Leu)	PHOSPHO2, PHOSPHO2-KLHL23 (F237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520534	NM_001008489.4(PHOSPHO2):c.715A>G (p.Ile239Val)	PHOSPHO2, PHOSPHO2-KLHL23 (I239V)	Single nucleotide variant (missense variant +1 more)	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: 30