HINFP[gene] - ClinVar

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Items: 63

	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 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2612550	NM_198971.3(HINFP):c.59G>A (p.Gly20Glu)	HINFP (G20E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372817	NM_198971.3(HINFP):c.79T>C (p.Ser27Pro)	HINFP (S27P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244016	NM_198971.3(HINFP):c.145G>A (p.Glu49Lys)	HINFP (E49K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232423	NM_198971.3(HINFP):c.146A>T (p.Glu49Val)	HINFP (E49V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551230	NM_198971.3(HINFP):c.223T>C (p.Ser75Pro)	HINFP (S75P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305698	NM_198971.3(HINFP):c.251G>A (p.Arg84His)	HINFP (R107H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284291	NM_198971.3(HINFP):c.421G>A (p.Asp141Asn)	HINFP (D141N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105861	NM_198971.3(HINFP):c.500C>T (p.Pro167Leu)	HINFP (P167L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590861	NM_198971.3(HINFP):c.560G>A (p.Arg187Gln)	HINFP (R187Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330949	NM_198971.3(HINFP):c.572G>A (p.Arg191His)	HINFP (R191H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257846	NM_198971.3(HINFP):c.642C>A (p.Phe214Leu)	HINFP (F214L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519031	NM_198971.3(HINFP):c.682C>T (p.His228Tyr)	HINFP (H22Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384001	NM_198971.3(HINFP):c.727C>A (p.Leu243Ile)	HINFP (L37I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306159	NM_198971.3(HINFP):c.743T>G (p.Met248Arg)	HINFP (M248R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105856	NM_198971.3(HINFP):c.1084G>A (p.Val362Met)	HINFP (V156M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105857	NM_198971.3(HINFP):c.1112A>G (p.Lys371Arg)	HINFP (K124R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105858	NM_198971.3(HINFP):c.1190A>T (p.Glu397Val)	HINFP (E191V +5 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3284290	NM_198971.3(HINFP):c.1223A>T (p.Gln408Leu)	HINFP (Q161L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622509	NM_198971.3(HINFP):c.1238C>T (p.Ser413Leu)	HINFP (S166L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2482871	NM_198971.3(HINFP):c.1378C>T (p.Pro460Ser)	HINFP (P213S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2383406	NM_198971.3(HINFP):c.1420G>A (p.Gly474Ser)	HINFP (G474S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3105859	NM_198971.3(HINFP):c.1439A>G (p.Tyr480Cys)	HINFP (Y233C +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245178	NM_198971.3(HINFP):c.1453G>A (p.Glu485Lys)	HINFP (E279K +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2233361	NM_198971.3(HINFP):c.1471C>G (p.Pro491Ala)	HINFP (P491A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2272198	NM_198971.3(HINFP):c.1520G>A (p.Gly507Glu)	HINFP (G260E +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2425315	NC_000011.9:g.(?_118967708)_(119103425_?)dup	ABCG4, C2CD2L +6 more	Duplication	RASopathy	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	RNF26, TAGLN +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340179	GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3	ABCG4, C2CD2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 833331	NC_000011.9:g.(?_118967698)_(119170501_?)dup	ABCG4, C2CD2L +6 more	Duplication	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	ABCG4, ARCN1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 652390	NC_000011.9:g.(?_118967698)_(119170501_?)del	ABCG4, C2CD2L +6 more	Deletion	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 63