23187[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 2238146	NM_001144758.3(PHLDB1):c.81C>G (p.Ile27Met)	PHLDB1 (I27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539431	NM_001144758.3(PHLDB1):c.118C>G (p.Pro40Ala)	PHLDB1 (P40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285834	NM_001144758.3(PHLDB1):c.173C>T (p.Pro58Leu)	PHLDB1 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395735	NM_001144758.3(PHLDB1):c.208G>C (p.Ala70Pro)	PHLDB1 (A70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379984	NM_001144758.3(PHLDB1):c.271C>T (p.Arg91Trp)	PHLDB1 (R91W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397111	NM_001144758.3(PHLDB1):c.328G>C (p.Val110Leu)	PHLDB1 (V110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212284	NM_001144758.3(PHLDB1):c.343C>T (p.Arg115Trp)	PHLDB1 (R115W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491483	NM_001144758.3(PHLDB1):c.344G>A (p.Arg115Gln)	PHLDB1 (R115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306216	NM_001144758.3(PHLDB1):c.374G>A (p.Gly125Asp)	PHLDB1 (G125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592725	NM_001144758.3(PHLDB1):c.517C>T (p.Pro173Ser)	PHLDB1 (P173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460953	NM_001144758.3(PHLDB1):c.616C>A (p.Leu206Ile)	PHLDB1 (L206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212288	NM_001144758.3(PHLDB1):c.621G>C (p.Glu207Asp)	PHLDB1 (E207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348271	NM_001144758.3(PHLDB1):c.710C>G (p.Thr237Ser)	PHLDB1 (T237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212290	NM_001144758.3(PHLDB1):c.844C>T (p.Pro282Ser)	PHLDB1 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212291	NM_001144758.3(PHLDB1):c.863G>A (p.Arg288His)	PHLDB1 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402560	NM_001144758.3(PHLDB1):c.893C>T (p.Pro298Leu)	PHLDB1 (P298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264735	NM_001144758.3(PHLDB1):c.911G>A (p.Ser304Asn)	PHLDB1 (S304N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306212	NM_001144758.3(PHLDB1):c.920G>C (p.Arg307Pro)	PHLDB1 (R307P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556506	NM_001144758.3(PHLDB1):c.920G>A (p.Arg307His)	PHLDB1 (R307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306211	NM_001144758.3(PHLDB1):c.982C>T (p.Arg328Trp)	PHLDB1 (R328W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335047	NM_001144758.3(PHLDB1):c.983G>A (p.Arg328Gln)	PHLDB1 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517905	NM_001144758.3(PHLDB1):c.991C>G (p.Leu331Val)	PHLDB1 (L331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355360	NM_001144758.3(PHLDB1):c.1031G>A (p.Arg344Gln)	PHLDB1 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232740	NM_001144758.3(PHLDB1):c.1190C>G (p.Thr397Arg)	PHLDB1 (T397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306215	NM_001144758.3(PHLDB1):c.1226C>G (p.Pro409Arg)	PHLDB1 (P409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212275	NM_001144758.3(PHLDB1):c.1232G>A (p.Gly411Asp)	PHLDB1 (G411D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568980	NM_001144758.3(PHLDB1):c.1343G>A (p.Arg448Gln)	PHLDB1 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588225	NM_001144758.3(PHLDB1):c.1346G>A (p.Arg449Gln)	PHLDB1 (R449Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315560	NM_001144758.3(PHLDB1):c.1364G>A (p.Arg455Gln)	PHLDB1 (R455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617926	NM_001144758.3(PHLDB1):c.1376C>G (p.Pro459Arg)	PHLDB1 (P459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216793	NM_001144758.3(PHLDB1):c.1376C>T (p.Pro459Leu)	PHLDB1 (P459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338437	NM_001144758.3(PHLDB1):c.1397G>A (p.Arg466Gln)	PHLDB1 (R466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212276	NM_001144758.3(PHLDB1):c.1412C>T (p.Pro471Leu)	PHLDB1 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306210	NM_001144758.3(PHLDB1):c.1502C>T (p.Ser501Leu)	PHLDB1 (S501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306218	NM_001144758.3(PHLDB1):c.1514T>G (p.Phe505Cys)	PHLDB1 (F505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642439	NM_001144758.3(PHLDB1):c.1538G>A (p.Gly513Asp)	PHLDB1 (G513D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3306214	NM_001144758.3(PHLDB1):c.1567C>A (p.Leu523Met)	PHLDB1 (L523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595500	NM_001144758.3(PHLDB1):c.1613T>C (p.Leu538Pro)	PHLDB1 (L538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300595	NM_001144758.3(PHLDB1):c.1613T>A (p.Leu538Gln)	PHLDB1 (L538Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524162	NM_001144758.3(PHLDB1):c.1724G>A (p.Arg575Gln)	PHLDB1 (R575Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607789	NM_001144758.3(PHLDB1):c.1748G>A (p.Ser583Asn)	PHLDB1 (S583N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642440	NM_001144758.3(PHLDB1):c.1761C>T (p.Asp587=)	PHLDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362052	NM_001144758.3(PHLDB1):c.1804C>T (p.Arg602Trp)	PHLDB1 (R602W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212277	NM_001144758.3(PHLDB1):c.1905G>C (p.Glu635Asp)	PHLDB1 (E635D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568934	NM_001144758.3(PHLDB1):c.1981T>G (p.Ser661Ala)	PHLDB1 (S661A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347495	NM_001144758.3(PHLDB1):c.2021G>A (p.Arg674His)	PHLDB1 (R674H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402039	NM_001144758.3(PHLDB1):c.2085G>C (p.Glu695Asp)	PHLDB1 (E695D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302263	NM_001144758.3(PHLDB1):c.2137G>T (p.Val713Leu)	PHLDB1 (V713L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471180	NM_001144758.3(PHLDB1):c.2191A>C (p.Lys731Gln)	PHLDB1 (K731Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405021	NM_001144758.3(PHLDB1):c.2200G>A (p.Val734Met)	PHLDB1 (V734M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247296	NM_001144758.3(PHLDB1):c.2233G>A (p.Ala745Thr)	PHLDB1 (A745T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212278	NM_001144758.3(PHLDB1):c.2237G>A (p.Arg746Gln)	PHLDB1 (R746Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212279	NM_001144758.3(PHLDB1):c.2330A>G (p.Gln777Arg)	PHLDB1 (Q777R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664073	NM_001144758.3(PHLDB1):c.2392dup (p.Leu798fs)	PHLDB1 (L798fs)	Duplication (frameshift variant)	Osteogenesis imperfecta, type 23	GPathogenic
Select item 3306217	NM_001144758.3(PHLDB1):c.2483A>G (p.Gln828Arg)	PHLDB1 (Q828R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642441	NM_001144758.3(PHLDB1):c.2586C>T (p.Ala862=)	PHLDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2500160	NM_001144758.3(PHLDB1):c.2603G>A (p.Arg868His)	PHLDB1 (R868H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2664074	NM_001144758.3(PHLDB1):c.2690_2693del (p.Leu897fs)	PHLDB1 (L897fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta, type 23	GPathogenic
Select item 3212280	NM_001144758.3(PHLDB1):c.2738T>C (p.Met913Thr)	PHLDB1 (M913T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547879	NM_001144758.3(PHLDB1):c.2741A>C (p.Glu914Ala)	PHLDB1 (E914A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212281	NM_001144758.3(PHLDB1):c.2752C>T (p.Leu918Phe)	PHLDB1 (L918F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611031	NM_001144758.3(PHLDB1):c.2837C>T (p.Ser946Phe)	PHLDB1 (S946F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389165	NM_001144758.3(PHLDB1):c.2866C>T (p.Arg956Cys)	PHLDB1 (R956C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305116	NM_001144758.3(PHLDB1):c.2897A>G (p.Asp966Gly)	PHLDB1 (D919G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472470	NM_001144758.3(PHLDB1):c.2902G>A (p.Glu968Lys)	PHLDB1 (E921K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306213	NM_001144758.3(PHLDB1):c.2923C>T (p.Arg975Trp)	PHLDB1 (R928W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212282	NM_001144758.3(PHLDB1):c.2935G>A (p.Gly979Ser)	PHLDB1 (G979S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306219	NM_001144758.3(PHLDB1):c.2951C>A (p.Ser984Tyr)	PHLDB1 (S937Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566917	NM_001144758.3(PHLDB1):c.3059G>A (p.Arg1020His)	PHLDB1 (R973H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212283	NM_001144758.3(PHLDB1):c.3145C>T (p.Arg1049Trp)	PHLDB1 (R1002W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542796	NM_001144758.3(PHLDB1):c.3146G>A (p.Arg1049Gln)	PHLDB1 (R1002Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349318	NM_001144758.3(PHLDB1):c.3149G>A (p.Arg1050Gln)	PHLDB1 (R1050Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230921	NM_001144758.3(PHLDB1):c.3242C>T (p.Ser1081Leu)	PHLDB1 (S1034L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024783	NM_001144758.3(PHLDB1):c.3322G>A (p.Ala1108Thr)	PHLDB1 (A1061T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2475419	NM_001144758.3(PHLDB1):c.3340C>A (p.Leu1114Met)	PHLDB1 (L1114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230368	NM_001144758.3(PHLDB1):c.3367A>G (p.Ser1123Gly)	PHLDB1 (S1076G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619257	NM_001144758.3(PHLDB1):c.3389C>T (p.Ser1130Leu)	PHLDB1 (S1083L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212285	NM_001144758.3(PHLDB1):c.3553C>T (p.Arg1185Trp)	PHLDB1 (R1185W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212286	NM_001144758.3(PHLDB1):c.3554G>A (p.Arg1185Gln)	PHLDB1 (R1138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513450	NM_001144758.3(PHLDB1):c.3559C>T (p.Arg1187Cys)	PHLDB1 (R1140C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374278	NM_001144758.3(PHLDB1):c.3574C>T (p.Arg1192Trp)	PHLDB1 (R1145W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339389	NM_001144758.3(PHLDB1):c.3598C>T (p.Arg1200Trp)	PHLDB1 (R1153W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642442	NM_001144758.3(PHLDB1):c.3615C>T (p.Val1205=)	PHLDB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642443	NM_001144758.3(PHLDB1):c.3654+5A>G	PHLDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3212287	NM_001144758.3(PHLDB1):c.3685C>T (p.Arg1229Trp)	PHLDB1 (R1182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461077	NM_001144758.3(PHLDB1):c.3743C>T (p.Thr1248Ile)	PHLDB1 (T1248I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487102	NM_001144758.3(PHLDB1):c.3844C>T (p.Arg1282Trp)	PHLDB1 (R1235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642444	NM_001144758.3(PHLDB1):c.3974G>A (p.Arg1325His)	PHLDB1 (R1325H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2208755	NM_001144758.3(PHLDB1):c.3995G>C (p.Ser1332Thr)	PHLDB1 (S1332T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537544	NM_001144758.3(PHLDB1):c.4018T>G (p.Cys1340Gly)	PHLDB1 (C1340G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic

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