NHERF4[gene] - ClinVar

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Items: 75

	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 2594020	NM_001168468.2(NHERF4):c.13G>A (p.Ala5Thr)	NHERF4 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3299624	NM_001168468.2(NHERF4):c.32C>T (p.Ala11Val)	NHERF4 (A11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525386	NM_001168468.2(NHERF4):c.35C>T (p.Ser12Leu)	NHERF4 (S12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199635	NM_001168468.2(NHERF4):c.136C>T (p.Arg46Trp)	NHERF4 (R46W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199638	NM_001168468.2(NHERF4):c.137G>A (p.Arg46Gln)	NHERF4 (R46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199642	NM_001168468.2(NHERF4):c.166G>A (p.Glu56Lys)	NHERF4 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199644	NM_001168468.2(NHERF4):c.201G>C (p.Glu67Asp)	NHERF4 (E67D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468792	NM_001168468.2(NHERF4):c.203T>C (p.Leu68Pro)	NHERF4 (L68P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523375	NM_001168468.2(NHERF4):c.328G>A (p.Val110Met)	NHERF4 (V110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454521	NM_001168468.2(NHERF4):c.338G>A (p.Arg113His)	NHERF4 (R113H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199659	NM_001168468.2(NHERF4):c.346C>T (p.Arg116Trp)	NHERF4 (R116W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491290	NM_001168468.2(NHERF4):c.407G>A (p.Arg136Gln)	NHERF4 (R136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199668	NM_001168468.2(NHERF4):c.414G>T (p.Gln138His)	NHERF4 (Q138H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299631	NM_001168468.2(NHERF4):c.423A>C (p.Glu141Asp)	NHERF4 (E141D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474376	NM_001168468.2(NHERF4):c.433C>T (p.Leu145Phe)	NHERF4 (L145F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299630	NM_001168468.2(NHERF4):c.452C>T (p.Pro151Leu)	NHERF4 (P151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299623	NM_001168468.2(NHERF4):c.478A>C (p.Ile160Leu)	NHERF4 (I160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199675	NM_001168468.2(NHERF4):c.595C>T (p.Arg199Trp)	NHERF4 (R199W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519659	NM_001168468.2(NHERF4):c.596G>A (p.Arg199Gln)	NHERF4 (R199Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299622	NM_001168468.2(NHERF4):c.722G>A (p.Arg241His)	NHERF4 (R241H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299629	NM_001168468.2(NHERF4):c.767C>T (p.Ala256Val)	NHERF4 (A256V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199682	NM_001168468.2(NHERF4):c.785G>A (p.Arg262His)	NHERF4 (R262H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299626	NM_001168468.2(NHERF4):c.819T>G (p.Phe273Leu)	NHERF4 (F259L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199686	NM_001168468.2(NHERF4):c.833G>A (p.Arg278Gln)	NHERF4 (R278Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199691	NM_001168468.2(NHERF4):c.856C>T (p.Arg286Cys)	NHERF4 (R272C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528069	NM_001168468.2(NHERF4):c.857G>A (p.Arg286His)	NHERF4 (R272H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199699	NM_001168468.2(NHERF4):c.880G>A (p.Val294Met)	NHERF4 (V280M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199702	NM_001168468.2(NHERF4):c.887C>T (p.Pro296Leu)	NHERF4 (P296L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299625	NM_001168468.2(NHERF4):c.913A>G (p.Met305Val)	NHERF4 (M291V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299627	NM_001168468.2(NHERF4):c.1075C>A (p.Leu359Ile)	NHERF4 (L359I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488096	NM_001168468.2(NHERF4):c.1235A>G (p.Tyr412Cys)	NHERF4 (Y398C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3199615	NM_001168468.2(NHERF4):c.1255G>C (p.Val419Leu)	NHERF4 (V405L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199619	NM_001168468.2(NHERF4):c.1270C>T (p.Arg424Cys)	NHERF4 (R424C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199624	NM_001168468.2(NHERF4):c.1297G>A (p.Gly433Arg)	NHERF4 (G419R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199627	NM_001168468.2(NHERF4):c.1312C>T (p.Arg438Trp)	NHERF4 (R424W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299632	NM_001168468.2(NHERF4):c.1318G>A (p.Gly440Arg)	NHERF4 (G426R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549364	NM_001168468.2(NHERF4):c.1354G>C (p.Gly452Arg)	NHERF4 (G452R +1 more)	Single nucleotide variant (missense 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	GRIK4, H2AX +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: 75