NIM1K[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 155284	GRCh38/hg38 5p12(chr5:42720837-43251761)x3	ANXA2R, ANXA2R-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 3200070	NM_153361.4(NIM1K):c.20A>G (p.Asn7Ser)	NIM1K (N7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222536	NM_153361.4(NIM1K):c.53G>C (p.Arg18Pro)	NIM1K (R18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239391	NM_153361.4(NIM1K):c.67G>A (p.Asp23Asn)	NIM1K (D23N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200067	NM_153361.4(NIM1K):c.119G>A (p.Gly40Glu)	NIM1K (G40E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355546	NM_153361.4(NIM1K):c.137C>T (p.Thr46Met)	NIM1K (T46M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283525	NM_153361.4(NIM1K):c.139C>T (p.Pro47Ser)	NIM1K (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461052	NM_153361.4(NIM1K):c.140C>G (p.Pro47Arg)	NIM1K (P47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200069	NM_153361.4(NIM1K):c.197C>T (p.Thr66Met)	NIM1K (T66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200071	NM_153361.4(NIM1K):c.338A>C (p.Lys113Thr)	NIM1K (K113T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487611	NM_153361.4(NIM1K):c.401T>A (p.Ile134Asn)	NIM1K (I134N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200072	NM_153361.4(NIM1K):c.442T>G (p.Leu148Val)	NIM1K (L148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347459	NM_153361.4(NIM1K):c.455A>G (p.Tyr152Cys)	NIM1K (Y152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299737	NM_153361.4(NIM1K):c.511C>T (p.Pro171Ser)	NIM1K (P171S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537894	NM_153361.4(NIM1K):c.570C>A (p.Asn190Lys)	NIM1K (N190K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200073	NM_153361.4(NIM1K):c.610T>C (p.Tyr204His)	NIM1K (Y204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612055	NM_153361.4(NIM1K):c.678G>A (p.Met226Ile)	NIM1K (M226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655452	NM_153361.4(NIM1K):c.798T>C (p.Thr266=)	NIM1K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2592586	NM_153361.4(NIM1K):c.826G>A (p.Val276Met)	NIM1K (V276M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280377	NM_153361.4(NIM1K):c.1027C>T (p.His343Tyr)	NIM1K (H343Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299738	NM_153361.4(NIM1K):c.1106A>G (p.Glu369Gly)	NIM1K (E369G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252815	NM_153361.4(NIM1K):c.1139G>A (p.Arg380His)	NIM1K (R380H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299739	NM_153361.4(NIM1K):c.1156G>T (p.Val386Phe)	NIM1K (V386F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226835	NM_153361.4(NIM1K):c.1178G>C (p.Arg393Thr)	NIM1K (R393T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537325	NM_153361.4(NIM1K):c.1204A>C (p.Ser402Arg)	NIM1K (S402R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284310	NM_153361.4(NIM1K):c.1261C>T (p.Arg421Cys)	NIM1K (R421C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299740	NM_153361.4(NIM1K):c.1280G>T (p.Arg427Ile)	NIM1K (R427I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 34