ZNHIT2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199152	NM_014205.4(ZNHIT2):c.1168G>A (p.Val390Met)	ZNHIT2 (V390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354774	NM_014205.4(ZNHIT2):c.1124T>C (p.Val375Ala)	ZNHIT2 (V375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272766	NM_014205.4(ZNHIT2):c.1108G>A (p.Val370Met)	ZNHIT2 (V370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259930	NM_014205.4(ZNHIT2):c.1093C>T (p.His365Tyr)	ZNHIT2 (H365Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477810	NM_014205.4(ZNHIT2):c.1088G>C (p.Arg363Thr)	ZNHIT2 (R363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295583	NM_014205.4(ZNHIT2):c.1072G>A (p.Ala358Thr)	ZNHIT2 (A358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313445	NM_014205.4(ZNHIT2):c.1036T>A (p.Trp346Arg)	ZNHIT2 (W346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199151	NM_014205.4(ZNHIT2):c.1021C>A (p.Gln341Lys)	ZNHIT2 (Q341K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259926	NM_014205.4(ZNHIT2):c.992A>C (p.Asp331Ala)	ZNHIT2 (D331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286420	NM_014205.4(ZNHIT2):c.991G>T (p.Asp331Tyr)	ZNHIT2 (D331Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226946	NM_014205.4(ZNHIT2):c.956G>A (p.Arg319His)	ZNHIT2 (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259927	NM_014205.4(ZNHIT2):c.911G>A (p.Gly304Asp)	ZNHIT2 (G304D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259931	NM_014205.4(ZNHIT2):c.902A>G (p.Asn301Ser)	ZNHIT2 (N301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259925	NM_014205.4(ZNHIT2):c.874C>T (p.Arg292Cys)	ZNHIT2 (R292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553476	NM_014205.4(ZNHIT2):c.851G>A (p.Arg284Gln)	ZNHIT2 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546543	NM_014205.4(ZNHIT2):c.845G>C (p.Gly282Ala)	ZNHIT2 (G282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199157	NM_014205.4(ZNHIT2):c.820G>A (p.Gly274Ser)	ZNHIT2 (G274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274556	NM_014205.4(ZNHIT2):c.757G>T (p.Ala253Ser)	ZNHIT2 (A253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259929	NM_014205.4(ZNHIT2):c.752T>C (p.Leu251Pro)	ZNHIT2 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339222	NM_014205.4(ZNHIT2):c.733C>T (p.Leu245Phe)	ZNHIT2 (L245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205901	NM_014205.4(ZNHIT2):c.682C>G (p.Leu228Val)	ZNHIT2 (L228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277875	NM_014205.4(ZNHIT2):c.660C>A (p.Phe220Leu)	ZNHIT2 (F220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259928	NM_014205.4(ZNHIT2):c.574G>C (p.Val192Leu)	ZNHIT2 (V192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589710	NM_014205.4(ZNHIT2):c.554C>T (p.Pro185Leu)	ZNHIT2 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594269	NM_014205.4(ZNHIT2):c.542T>C (p.Leu181Pro)	ZNHIT2 (L181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320887	NM_014205.4(ZNHIT2):c.520C>G (p.Pro174Ala)	ZNHIT2 (P174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199155	NM_014205.4(ZNHIT2):c.488C>T (p.Pro163Leu)	ZNHIT2 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605636	NM_014205.4(ZNHIT2):c.480G>T (p.Arg160Ser)	ZNHIT2 (R160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290511	NM_014205.4(ZNHIT2):c.464A>G (p.Glu155Gly)	ZNHIT2 (E155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468031	NM_014205.4(ZNHIT2):c.446G>A (p.Ser149Asn)	ZNHIT2 (S149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481361	NM_014205.4(ZNHIT2):c.443G>C (p.Gly148Ala)	ZNHIT2 (G148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468839	NM_014205.4(ZNHIT2):c.415C>T (p.Leu139Phe)	ZNHIT2 (L139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494530	NM_014205.4(ZNHIT2):c.397C>T (p.Arg133Cys)	ZNHIT2 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560433	NM_014205.4(ZNHIT2):c.371C>T (p.Pro124Leu)	ZNHIT2 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259924	NM_014205.4(ZNHIT2):c.370C>T (p.Pro124Ser)	ZNHIT2 (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219548	NM_014205.4(ZNHIT2):c.316G>A (p.Glu106Lys)	ZNHIT2 (E106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251419	NM_014205.4(ZNHIT2):c.262T>C (p.Ser88Pro)	ZNHIT2 (S88P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221985	NM_014205.4(ZNHIT2):c.224G>T (p.Arg75Leu)	ZNHIT2 (R75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199153	NM_014205.4(ZNHIT2):c.205C>T (p.Arg69Cys)	ZNHIT2 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787376	NM_014205.4(ZNHIT2):c.190C>T (p.Leu64=)	ZNHIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330332	NM_014205.4(ZNHIT2):c.181C>T (p.Pro61Ser)	ZNHIT2 (P61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316514	NM_014205.4(ZNHIT2):c.170G>T (p.Cys57Phe)	ZNHIT2 (C57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358360	NM_014205.4(ZNHIT2):c.119C>T (p.Thr40Ile)	ZNHIT2 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465903	NM_014205.4(ZNHIT2):c.94C>G (p.Leu32Val)	ZNHIT2 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278793	NM_014205.4(ZNHIT2):c.83C>T (p.Pro28Leu)	ZNHIT2 (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220095	NM_014205.4(ZNHIT2):c.82C>T (p.Pro28Ser)	ZNHIT2 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199156	NM_014205.4(ZNHIT2):c.79G>A (p.Ala27Thr)	ZNHIT2 (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713991	NM_014205.4(ZNHIT2):c.24C>T (p.Gly8=)	ZNHIT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3199154	NM_014205.4(ZNHIT2):c.23G>C (p.Gly8Ala)	ZNHIT2 (G8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326680	NM_014205.4(ZNHIT2):c.7C>G (p.Pro3Ala)	ZNHIT2 (P3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61