83552[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 302919	NM_001278431.2(C1QTNF5):c.*345G>T	MFRP, C1QTNF5	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 302920	NM_001278431.2(C1QTNF5):c.*251C>T	MFRP, C1QTNF5	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 879281	NM_001278431.2(C1QTNF5):c.*236C>T	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 879282	NM_001278431.2(C1QTNF5):c.*211C>A	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 302921	NM_001278431.2(C1QTNF5):c.*158C>A	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302922	NM_001278431.2(C1QTNF5):c.*62A>T	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 302923	NM_001278431.2(C1QTNF5):c.*34C>G	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +2 more	GBenign/Likely benign
Select item 877700	NM_001278431.2(C1QTNF5):c.*1T>C	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 2979587	NM_001278431.2(C1QTNF5):c.714C>T (p.Ser238=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1956620	NM_001278431.2(C1QTNF5):c.711C>T (p.His237=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1466724	NM_001278431.2(C1QTNF5):c.703G>T (p.Asp235Tyr)	C1QTNF5, MFRP (D235Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369497	NM_001278431.2(C1QTNF5):c.685G>A (p.Gly229Arg)	C1QTNF5, MFRP (G229R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1060262	NM_001278431.2(C1QTNF5):c.671_674del (p.Asp224fs)	C1QTNF5, MFRP (D224fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1008550	NM_001278431.2(C1QTNF5):c.653A>T (p.Tyr218Phe)	C1QTNF5, MFRP (Y218F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2863167	NM_001278431.2(C1QTNF5):c.648C>T (p.Gly216=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 302924	NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr)	C1QTNF5, MFRP (I215T)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +3 more	GUncertain significance
Select item 1091180	NM_001278431.2(C1QTNF5):c.642C>T (p.Tyr214=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431299	NM_001278431.2(C1QTNF5):c.635G>C (p.Gly212Ala)	C1QTNF5, MFRP (G212A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898321	NM_001278431.2(C1QTNF5):c.630T>C (p.Gly210=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132751	NM_001278431.2(C1QTNF5):c.629G>A (p.Gly210Asp)	C1QTNF5, MFRP (G210D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 866790	NM_001278431.2(C1QTNF5):c.628G>C (p.Gly210Arg)	C1QTNF5, MFRP (G210R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1480396	NM_001278431.2(C1QTNF5):c.625G>A (p.Val209Met)	C1QTNF5, MFRP (V209M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064544	NM_001278431.2(C1QTNF5):c.613G>C (p.Val205Leu)	C1QTNF5, MFRP (V205L)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GLikely benign
Select item 2096932	NM_001278431.2(C1QTNF5):c.601C>T (p.Pro201Ser)	C1QTNF5, MFRP (P201S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478649	NM_001278431.2(C1QTNF5):c.599A>G (p.Glu200Gly)	C1QTNF5, MFRP (E200G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1054436	NM_001278431.2(C1QTNF5):c.598G>C (p.Glu200Gln)	C1QTNF5, MFRP (E200Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992430	NM_001278431.2(C1QTNF5):c.597G>A (p.Leu199=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1117959	NM_001278431.2(C1QTNF5):c.592A>C (p.Arg198=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442330	NM_001278431.2(C1QTNF5):c.589G>C (p.Val197Leu)	C1QTNF5, MFRP (V197L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 866088	NM_001278431.2(C1QTNF5):c.586A>G (p.Met196Val)	C1QTNF5, MFRP (M196V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 499754	NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs)	C1QTNF5, MFRP (A195fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GBenign
Select item 1575640	NM_001278431.2(C1QTNF5):c.576G>C (p.Ser192=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146649	NM_001278431.2(C1QTNF5):c.576G>T (p.Ser192=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 438183	NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp)	C1QTNF5, MFRP (S190W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 302925	NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Late-onset retinal degeneration +3 more	GConflicting classifications of pathogenicity
Select item 2979483	NM_001278431.2(C1QTNF5):c.566C>T (p.Ala189Val)	C1QTNF5, MFRP (A189V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 865827	NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu)	C1QTNF5, MFRP (P188L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1687105	NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)	C1QTNF5, MFRP (P188T)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +1 more	GPathogenic/Likely pathogenic
Select item 813996	NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)	C1QTNF5, MFRP (P188A)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GLikely pathogenic
Select item 813997	NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)	C1QTNF5, MFRP (K187N)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance
Select item 438182	NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser)	C1QTNF5, MFRP (P186S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 1623194	NM_001278431.2(C1QTNF5):c.552G>A (p.Gly184=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234527	NM_001278431.2(C1QTNF5):c.549G>A (p.Gly183=)	MFRP, C1QTNF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1481816	NM_001278431.2(C1QTNF5):c.548G>A (p.Gly183Glu)	C1QTNF5, MFRP (G183E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1063435	NM_001278431.2(C1QTNF5):c.548G>C (p.Gly183Ala)	C1QTNF5, MFRP (G183A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 867128	NM_001278431.2(C1QTNF5):c.545T>C (p.Phe182Ser)	C1QTNF5, MFRP (F182S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1156428	NM_001278431.2(C1QTNF5):c.540G>A (p.Gln180=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392627	NM_001278431.2(C1QTNF5):c.539A>C (p.Gln180Pro)	C1QTNF5, MFRP (Q180P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664945	NM_001278431.2(C1QTNF5):c.516C>A (p.Gly172=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392978	NM_001278431.2(C1QTNF5):c.505G>A (p.Val169Met)	C1QTNF5, MFRP (V169M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996070	NM_001278431.2(C1QTNF5):c.503T>C (p.Leu168Pro)	C1QTNF5, MFRP (L168P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1155395	NM_001278431.2(C1QTNF5):c.498T>C (p.Phe166=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 386813	NM_001278431.2(C1QTNF5):c.495G>C (p.Gln165His)	C1QTNF5, MFRP (Q165H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 865771	NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)	C1QTNF5, MFRP (S163R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2126	NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	C1QTNF5, MFRP (S163R)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +2 more	GPathogenic/Likely pathogenic
Select item 1385356	NM_001278431.2(C1QTNF5):c.481C>A (p.Arg161=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2114976	NM_001278431.2(C1QTNF5):c.470C>T (p.Ala157Val)	C1QTNF5, MFRP (A157V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986359	NM_001278431.2(C1QTNF5):c.449T>C (p.Val150Ala)	C1QTNF5, MFRP (V150A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336681	NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr)	C1QTNF5, MFRP (C145Y)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance
Select item 755750	NM_001278431.2(C1QTNF5):c.432C>G (p.Thr144=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1106149	NM_001278431.2(C1QTNF5):c.420C>T (p.Thr140=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 302926	NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile)	C1QTNF5, MFRP (V139I)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +3 more	GUncertain significance
Select item 1533782	NM_001278431.2(C1QTNF5):c.414C>T (p.Ala138=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982822	NM_001278431.2(C1QTNF5):c.411C>T (p.Asp137=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1480572	NM_001278431.2(C1QTNF5):c.397C>A (p.Gln133Lys)	C1QTNF5, MFRP (Q133K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 302927	NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys)	C1QTNF5, MFRP (E132K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 852164	NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys)	C1QTNF5, MFRP (N131K)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +2 more	GUncertain significance
Select item 2165718	NM_001278431.2(C1QTNF5):c.390G>A (p.Val130=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1898465	NM_001278431.2(C1QTNF5):c.382G>C (p.Val128Leu)	C1QTNF5, MFRP (V128L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907079	NM_001278431.2(C1QTNF5):c.379C>A (p.Arg127Ser)	C1QTNF5, MFRP (R127S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1041044	NM_001278431.2(C1QTNF5):c.358G>A (p.Asp120Asn)	C1QTNF5, MFRP (D120N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 852148	NM_001278431.2(C1QTNF5):c.356C>T (p.Ser119Phe)	C1QTNF5, MFRP (S119F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2786322	NM_001278431.2(C1QTNF5):c.354G>C (p.Pro118=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 878728	NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Late-onset retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 1963100	NM_001278431.2(C1QTNF5):c.351G>A (p.Pro117=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 302928	NM_001278431.2(C1QTNF5):c.341G>A (p.Arg114Gln)	C1QTNF5, MFRP (R114Q)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +3 more	GConflicting classifications of pathogenicity
Select item 2140771	NM_001278431.2(C1QTNF5):c.329G>T (p.Arg110Leu)	C1QTNF5, MFRP (R110L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009750	NM_001278431.2(C1QTNF5):c.321C>G (p.Ser107Arg)	C1QTNF5, MFRP (S107R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490917	NM_001278431.2(C1QTNF5):c.317T>C (p.Phe106Ser)	C1QTNF5, MFRP (F106S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1116386	NM_001278431.2(C1QTNF5):c.307C>A (p.Arg103=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 501981	NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)	MFRP, C1QTNF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2841313	NM_001278431.2(C1QTNF5):c.305C>T (p.Pro102Leu)	C1QTNF5, MFRP (P102L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945957	NM_001278431.2(C1QTNF5):c.304C>T (p.Pro102Ser)	C1QTNF5, MFRP (P102S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1368048	NM_001278431.2(C1QTNF5):c.302C>T (p.Pro101Leu)	C1QTNF5, MFRP (P101L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1146847	NM_001278431.2(C1QTNF5):c.297G>T (p.Ser99=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 194544	NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Isolated microphthalmia 5 +3 more	GConflicting classifications of pathogenicity
Select item 1992853	NM_001278431.2(C1QTNF5):c.293G>T (p.Cys98Phe)	C1QTNF5, MFRP (C98F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022412	NM_001278431.2(C1QTNF5):c.285C>A (p.Ala95=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1140209	NM_001278431.2(C1QTNF5):c.285C>G (p.Ala95=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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