SP5[gene] - ClinVar

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Items: 48

	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 60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	ERICH2, ERICH2-DT +27 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 3167928	NM_001003845.3(SP5):c.231G>A (p.Met77Ile)	ERICH2-DT, SP5 (M77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321716	NM_001003845.3(SP5):c.257C>T (p.Pro86Leu)	ERICH2-DT, SP5 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398820	NM_001003845.3(SP5):c.301C>A (p.Leu101Met)	ERICH2-DT, SP5 (L101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377765	NM_001003845.3(SP5):c.323C>T (p.Ala108Val)	ERICH2-DT, SP5 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344123	NM_001003845.3(SP5):c.328G>C (p.Glu110Gln)	ERICH2-DT, SP5 (E110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604468	NM_001003845.3(SP5):c.334C>T (p.Pro112Ser)	ERICH2-DT, SP5 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167930	NM_001003845.3(SP5):c.382G>T (p.Val128Phe)	ERICH2-DT, SP5 (V128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225432	NM_001003845.3(SP5):c.404T>C (p.Met135Thr)	ERICH2-DT, SP5 (M135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167931	NM_001003845.3(SP5):c.452C>G (p.Ala151Gly)	ERICH2-DT, SP5 (A151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167932	NM_001003845.3(SP5):c.469C>T (p.Pro157Ser)	ERICH2-DT, SP5 (P157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167933	NM_001003845.3(SP5):c.515C>G (p.Pro172Arg)	ERICH2-DT, SP5 (P172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479901	NM_001003845.3(SP5):c.520A>G (p.Thr174Ala)	ERICH2-DT, SP5 (T174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620307	NM_001003845.3(SP5):c.574A>G (p.Ile192Val)	ERICH2-DT, SP5 (I192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558563	NM_001003845.3(SP5):c.592G>C (p.Gly198Arg)	ERICH2-DT, SP5 (G198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240795	NM_001003845.3(SP5):c.616G>C (p.Gly206Arg)	ERICH2-DT, SP5 (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273830	NM_001003845.3(SP5):c.638G>T (p.Cys213Phe)	ERICH2-DT, SP5 (C213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167935	NM_001003845.3(SP5):c.640G>A (p.Ala214Thr)	ERICH2-DT, SP5 (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379555	NM_001003845.3(SP5):c.640G>C (p.Ala214Pro)	ERICH2-DT, SP5 (A214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242319	NM_001003845.3(SP5):c.647C>A (p.Ala216Asp)	ERICH2-DT, SP5 (A216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167936	NM_001003845.3(SP5):c.682G>A (p.Ala228Thr)	ERICH2-DT, SP5 (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401021	NM_001003845.3(SP5):c.698C>G (p.Ala233Gly)	ERICH2-DT, SP5 (A233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260375	NM_001003845.3(SP5):c.700G>C (p.Ala234Pro)	ERICH2-DT, SP5 (A234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250350	NM_001003845.3(SP5):c.700G>A (p.Ala234Thr)	ERICH2-DT, SP5 (A234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239128	NM_001003845.3(SP5):c.760A>G (p.Ile254Val)	ERICH2-DT, SP5 (I254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167937	NM_001003845.3(SP5):c.880A>C (p.Lys294Gln)	ERICH2-DT, SP5 (K294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321714	NM_001003845.3(SP5):c.898G>A (p.Val300Met)	ERICH2-DT, SP5 (V300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321715	NM_001003845.3(SP5):c.902C>G (p.Pro301Arg)	ERICH2-DT, SP5 (P301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340935	NM_001003845.3(SP5):c.1090C>T (p.Arg364Cys)	ERICH2-DT, SP5 (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266503	NM_001003845.3(SP5):c.1121A>G (p.His374Arg)	ERICH2-DT, SP5 (H374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315731	NM_001003845.3(SP5):c.1175G>T (p.Arg392Leu)	ERICH2-DT, SP5 (R392L)	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 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	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 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

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Items: 48