"Ambry Genetics"[submitter] AND "INTU"[gene] - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2079097	NM_015693.4(INTU):c.92T>A (p.Phe31Tyr)	INTU (F31Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2259066	NM_015693.4(INTU):c.259C>T (p.His87Tyr)	INTU (H87Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110260	NM_015693.4(INTU):c.260A>C (p.His87Pro)	INTU (H87P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3005634	NM_015693.4(INTU):c.283A>C (p.Ile95Leu)	INTU (I95L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3286268	NM_015693.4(INTU):c.316A>G (p.Lys106Glu)	INTU (K106E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311546	NM_015693.4(INTU):c.331C>T (p.Leu111Phe)	INTU (L111F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189393	NM_015693.4(INTU):c.356G>C (p.Arg119Thr)	INTU (R119T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2618776	NM_015693.4(INTU):c.379C>T (p.Arg127Cys)	INTU (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309545	NM_015693.4(INTU):c.383G>A (p.Cys128Tyr)	INTU (C128Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485590	NM_015693.4(INTU):c.396T>A (p.Asn132Lys)	INTU (N132K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337992	NM_015693.4(INTU):c.515T>A (p.Val172Asp)	INTU (V172D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2548430	NM_015693.4(INTU):c.517A>G (p.Ile173Val)	INTU (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1986417	NM_015693.4(INTU):c.625G>A (p.Val209Met)	INTU (V209M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2954842	NM_015693.4(INTU):c.659T>C (p.Met220Thr)	INTU (M220T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2613473	NM_015693.4(INTU):c.697G>T (p.Ala233Ser)	INTU (A233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317195	NM_015693.4(INTU):c.995C>T (p.Pro332Leu)	INTU (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233593	NM_015693.4(INTU):c.1163T>C (p.Ile388Thr)	INTU (I388T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3110255	NM_015693.4(INTU):c.1207A>G (p.Met403Val)	INTU (M403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305699	NM_015693.4(INTU):c.1224C>G (p.Ile408Met)	INTU (I408M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204504	NM_015693.4(INTU):c.1271A>G (p.Gln424Arg)	INTU, LOC126807151 (Q424R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110256	NM_015693.4(INTU):c.1273A>G (p.Ile425Val)	INTU, LOC126807151 (I425V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3286271	NM_015693.4(INTU):c.1306A>T (p.Asn436Tyr)	INTU, LOC126807151 (N436Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286266	NM_015693.4(INTU):c.1318C>G (p.Gln440Glu)	INTU, LOC126807151 (Q440E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110257	NM_015693.4(INTU):c.1364G>T (p.Ser455Ile)	INTU, LOC126807151 (S455I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524691	NM_015693.4(INTU):c.1378G>A (p.Asp460Asn)	INTU, LOC126807151 (D460N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396022	NM_015693.4(INTU):c.1412C>T (p.Pro471Leu)	INTU, LOC126807151 (P471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2524630	NM_015693.4(INTU):c.1462A>C (p.Met488Leu)	INTU (M488L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296046	NM_015693.4(INTU):c.1586A>G (p.His529Arg)	INTU (H529R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1906030	NM_015693.4(INTU):c.1597G>T (p.Asp533Tyr)	INTU (D533Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1512320	NM_015693.4(INTU):c.1650A>T (p.Leu550Phe)	INTU (L550F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2211157	NM_015693.4(INTU):c.1689A>T (p.Arg563Ser)	INTU (R563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182014	NM_015693.4(INTU):c.1831G>A (p.Ala611Thr)	INTU (A611T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2049546	NM_015693.4(INTU):c.1880A>G (p.Gln627Arg)	INTU (Q627R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3110258	NM_015693.4(INTU):c.1919C>G (p.Ser640Cys)	INTU (S640C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303839	NM_015693.4(INTU):c.1933C>T (p.Arg645Trp)	INTU (R645W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155149	NM_015693.4(INTU):c.1993C>T (p.Arg665Cys)	INTU (R665C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2413939	NM_015693.4(INTU):c.2017A>G (p.Thr673Ala)	INTU (T673A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2372321	NM_015693.4(INTU):c.2113C>T (p.Arg705Cys)	INTU (R705C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1406579	NM_015693.4(INTU):c.2133T>G (p.Cys711Trp)	INTU (C711W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054867	NM_015693.4(INTU):c.2192A>G (p.His731Arg)	INTU (H731R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2247188	NM_015693.4(INTU):c.2283G>T (p.Lys761Asn)	INTU, LOC123480930 (K761N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1523379	NM_015693.4(INTU):c.2407G>A (p.Val803Ile)	INTU (V803I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174334	NM_015693.4(INTU):c.2411C>T (p.Ala804Val)	INTU (A804V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2328363	NM_015693.4(INTU):c.2479A>G (p.Ile827Val)	INTU (I827V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2254516	NM_015693.4(INTU):c.2567A>C (p.Lys856Thr)	INTU (K856T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280361	NM_015693.4(INTU):c.2588A>G (p.His863Arg)	INTU (H863R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2291773	NM_015693.4(INTU):c.2641G>C (p.Val881Leu)	INTU (V881L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1519655	NM_015693.4(INTU):c.2669G>C (p.Trp890Ser)	INTU (W890S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3286269	NM_015693.4(INTU):c.2676T>A (p.Asp892Glu)	INTU (D892E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238267	NM_015693.4(INTU):c.2699T>C (p.Met900Thr)	INTU (M900T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3110261	NM_015693.4(INTU):c.2739A>T (p.Lys913Asn)	INTU (K913N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286270	NM_015693.4(INTU):c.2749C>G (p.Leu917Val)	INTU (L917V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269168	NM_015693.4(INTU):c.2793A>C (p.Glu931Asp)	INTU (E931D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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: 53