TICRR[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 206

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 2229628	NM_152259.4(TICRR):c.52G>C (p.Ala18Pro)	LOC130057884, TICRR (A18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294759	NM_152259.4(TICRR):c.116G>A (p.Gly39Asp)	LOC130057884, TICRR (G39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326098	NM_152259.4(TICRR):c.184G>C (p.Val62Leu)	TICRR (V62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348389	NM_152259.4(TICRR):c.244G>A (p.Ala82Thr)	TICRR (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610166	NM_152259.4(TICRR):c.275G>A (p.Gly92Asp)	TICRR (G92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278898	NM_152259.4(TICRR):c.289G>A (p.Ala97Thr)	TICRR (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177381	NM_152259.4(TICRR):c.395G>A (p.Arg132Lys)	TICRR (R132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326087	NM_152259.4(TICRR):c.426G>T (p.Glu142Asp)	TICRR (E142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177384	NM_152259.4(TICRR):c.428C>A (p.Ala143Asp)	TICRR (A143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326091	NM_152259.4(TICRR):c.442G>T (p.Gly148Trp)	TICRR (G148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177387	NM_152259.4(TICRR):c.442G>C (p.Gly148Arg)	TICRR (G148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285782	NM_152259.4(TICRR):c.553C>T (p.Pro185Ser)	TICRR (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177399	NM_152259.4(TICRR):c.631G>A (p.Val211Met)	TICRR (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286405	NM_152259.4(TICRR):c.638C>T (p.Thr213Ile)	TICRR (T213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286561	NM_152259.4(TICRR):c.661G>A (p.Glu221Lys)	TICRR (E221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177400	NM_152259.4(TICRR):c.709C>G (p.His237Asp)	TICRR (H237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321957	NM_152259.4(TICRR):c.808C>G (p.Pro270Ala)	TICRR (P270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326093	NM_152259.4(TICRR):c.812A>G (p.His271Arg)	TICRR (H271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326082	NM_152259.4(TICRR):c.821C>G (p.Pro274Arg)	TICRR (P274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371029	NM_152259.4(TICRR):c.821C>A (p.Pro274Gln)	TICRR (P274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399401	NM_152259.4(TICRR):c.832A>G (p.Met278Val)	TICRR (M278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177401	NM_152259.4(TICRR):c.862T>G (p.Leu288Val)	TICRR (L288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326103	NM_152259.4(TICRR):c.869A>G (p.Tyr290Cys)	TICRR (Y290C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645694	NM_152259.4(TICRR):c.894G>A (p.Ser298=)	TICRR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782310	NM_152259.4(TICRR):c.902G>A (p.Arg301Gln)	TICRR (R301Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177402	NM_152259.4(TICRR):c.904A>G (p.Met302Val)	TICRR (M302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177403	NM_152259.4(TICRR):c.958T>G (p.Trp320Gly)	TICRR (W319G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542324	NM_152259.4(TICRR):c.964G>A (p.Val322Ile)	TICRR (V321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177404	NM_152259.4(TICRR):c.968C>A (p.Thr323Asn)	TICRR (T323N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257974	NM_152259.4(TICRR):c.1047G>C (p.Trp349Cys)	TICRR (W349C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177359	NM_152259.4(TICRR):c.1115C>T (p.Ala372Val)	TICRR (A372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177360	NM_152259.4(TICRR):c.1144G>A (p.Val382Ile)	TICRR (V382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326095	NM_152259.4(TICRR):c.1148G>A (p.Ser383Asn)	TICRR (S383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491886	NM_152259.4(TICRR):c.1177G>A (p.Val393Ile)	TICRR (V393I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326081	NM_152259.4(TICRR):c.1267C>T (p.Arg423Cys)	TICRR (R422C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603437	NM_152259.4(TICRR):c.1280C>A (p.Ala427Asp)	TICRR (A426D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326101	NM_152259.4(TICRR):c.1327C>G (p.Arg443Gly)	TICRR (R442G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177361	NM_152259.4(TICRR):c.1366A>G (p.Ile456Val)	TICRR (I456V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361093	NM_152259.4(TICRR):c.1408G>A (p.Ala470Thr)	TICRR (A469T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228336	NM_152259.4(TICRR):c.1412C>T (p.Ala471Val)	TICRR (A470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268655	NM_152259.4(TICRR):c.1478T>C (p.Val493Ala)	TICRR (V492A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494827	NM_152259.4(TICRR):c.1511G>T (p.Gly504Val)	TICRR (G504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209025	NM_152259.4(TICRR):c.1609C>A (p.Leu537Ile)	TICRR (L537I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177362	NM_152259.4(TICRR):c.1652T>C (p.Ile551Thr)	TICRR (I551T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177363	NM_152259.4(TICRR):c.1669A>C (p.Ser557Arg)	TICRR (S556R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363032	NM_152259.4(TICRR):c.1669A>G (p.Ser557Gly)	TICRR (S557G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588468	NM_152259.4(TICRR):c.1718A>G (p.Asn573Ser)	TICRR (N572S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317939	NM_152259.4(TICRR):c.1721C>A (p.Thr574Asn)	TICRR (T573N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177364	NM_152259.4(TICRR):c.1789G>C (p.Asp597His)	TICRR (D596H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546753	NM_152259.4(TICRR):c.1802A>G (p.Asp601Gly)	TICRR (D601G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326094	NM_152259.4(TICRR):c.1936C>T (p.Arg646Cys)	TICRR (R646C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302100	NM_152259.4(TICRR):c.1980G>T (p.Leu660Phe)	TICRR (L660F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341414	NM_152259.4(TICRR):c.1994G>A (p.Arg665Gln)	TICRR (R665Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380213	NM_152259.4(TICRR):c.2083C>G (p.Leu695Val)	TICRR (L695V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593495	NM_152259.4(TICRR):c.2102G>A (p.Ser701Asn)	TICRR (S700N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608304	NM_152259.4(TICRR):c.2140G>A (p.Asp714Asn)	TICRR (D713N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326102	NM_152259.4(TICRR):c.2200C>G (p.Pro734Ala)	TICRR (P733A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326079	NM_152259.4(TICRR):c.2316A>T (p.Glu772Asp)	TICRR (E772D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177365	NM_152259.4(TICRR):c.2392C>G (p.Gln798Glu)	TICRR (Q797E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326085	NM_152259.4(TICRR):c.2401G>T (p.Ala801Ser)	TICRR (A801S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513737	NM_152259.4(TICRR):c.2437T>C (p.Ser813Pro)	TICRR (S813P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489556	NM_152259.4(TICRR):c.2462C>G (p.Pro821Arg)	TICRR (P821R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398020	NM_152259.4(TICRR):c.2468T>C (p.Leu823Pro)	TICRR (L822P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345229	NM_152259.4(TICRR):c.2495G>A (p.Arg832His)	TICRR (R831H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547161	NM_152259.4(TICRR):c.2621G>A (p.Arg874Gln)	TICRR (R873Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177366	NM_152259.4(TICRR):c.2623C>A (p.Gln875Lys)	TICRR (Q875K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605858	NM_152259.4(TICRR):c.2738G>A (p.Arg913Gln)	TICRR (R913Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789825	NM_152259.4(TICRR):c.2768C>G (p.Ser923Cys)	TICRR (S922C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2480346	NM_152259.4(TICRR):c.2770C>T (p.Pro924Ser)	TICRR (P924S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177367	NM_152259.4(TICRR):c.2782T>C (p.Ser928Pro)	TICRR (S927P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326080	NM_152259.4(TICRR):c.2783C>T (p.Ser928Leu)	TICRR (S928L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532676	NM_152259.4(TICRR):c.2785C>G (p.Leu929Val)	TICRR (L929V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388520	NM_152259.4(TICRR):c.2808C>A (p.Ser936Arg)	TICRR (S935R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481242	NM_152259.4(TICRR):c.2825T>C (p.Val942Ala)	TICRR (V942A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607730	NM_152259.4(TICRR):c.2887A>T (p.Thr963Ser)	TICRR (T962S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369532	NM_152259.4(TICRR):c.2984T>C (p.Ile995Thr)	KIF7, TICRR (I994T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177368	NM_152259.4(TICRR):c.3022A>G (p.Ile1008Val)	KIF7, TICRR (I1008V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341996	NM_152259.4(TICRR):c.3035G>A (p.Arg1012Gln)	KIF7, TICRR (R1011Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177369	NM_152259.4(TICRR):c.3113G>A (p.Arg1038Gln)	KIF7, TICRR (R1037Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524619	NM_152259.4(TICRR):c.3179A>G (p.Gln1060Arg)	KIF7, TICRR (Q1059R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326083	NM_152259.4(TICRR):c.3187C>G (p.Arg1063Gly)	KIF7, TICRR (R1062G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177370	NM_152259.4(TICRR):c.3188G>T (p.Arg1063Leu)	KIF7, TICRR (R1062L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480407	NM_152259.4(TICRR):c.3227T>C (p.Met1076Thr)	KIF7, TICRR (M1075T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240171	NM_152259.4(TICRR):c.3290C>T (p.Ser1097Leu)	KIF7, TICRR (S1096L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177371	NM_152259.4(TICRR):c.3320A>C (p.Lys1107Thr)	KIF7, TICRR (K1107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177372	NM_152259.4(TICRR):c.3440C>G (p.Pro1147Arg)	KIF7, TICRR (P1147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384506	NM_152259.4(TICRR):c.3490G>A (p.Gly1164Ser)	KIF7, TICRR (G1163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177373	NM_152259.4(TICRR):c.3517A>G (p.Ile1173Val)	KIF7, TICRR (I1173V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768724	NM_152259.4(TICRR):c.3598G>A (p.Gly1200Ser)	KIF7, TICRR (G1199S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2335782	NM_152259.4(TICRR):c.3611C>T (p.Pro1204Leu)	KIF7, TICRR (P1203L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509727	NM_152259.4(TICRR):c.3616T>A (p.Phe1206Ile)	KIF7, TICRR (F1205I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3