"Illumina Laboratory Services, Illumina"[submitter] AND "ANAPC15"[gene - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882922	NM_001393500.2(TOMT):c.274C>T (p.Arg92Trp)	ANAPC15, TOMT +1 more (R125W +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 227535	NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)	ANAPC15, LRTOMT +1 more (A133P +2 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 305993	NM_001393500.2(TOMT):c.360G>A (p.Leu120=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882923	NM_001393500.2(TOMT):c.361C>G (p.Pro121Ala)	ANAPC15, LRTOMT +1 more (P114A +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305994	NM_001393500.2(TOMT):c.404C>T (p.Thr135Met)	ANAPC15, LRTOMT +1 more (T168M +2 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 305995	NM_001393500.2(TOMT):c.469G>A (p.Val157Met)	ANAPC15, LRTOMT +1 more (V190M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305996	NM_001393500.2(TOMT):c.486C>T (p.Asp162=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 305997	NM_001393500.2(TOMT):c.493C>T (p.Pro165Ser)	TOMT, ANAPC15 +1 more (P198S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305998	NM_001393500.2(TOMT):c.550C>T (p.Arg184Trp)	ANAPC15, LRTOMT +1 more (R217W +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GUncertain significance
Select item 883718	NM_001393500.2(TOMT):c.551G>A (p.Arg184Gln)	ANAPC15, LRTOMT +1 more (R217Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 883719	NM_001393500.2(TOMT):c.655C>T (p.Arg219Cys)	TOMT, ANAPC15 +1 more (R212C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305999	NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp)	ANAPC15, LRTOMT +1 more (C260W +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63 +3 more	GUncertain significance
Select item 306000	NM_001393500.2(TOMT):c.685C>T (p.Arg229Cys)	LRTOMT, TOMT +1 more (R262C +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306001	NM_001393500.2(TOMT):c.698G>A (p.Arg233His)	ANAPC15, LRTOMT +1 more (R266H +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 228842	NM_001393500.2(TOMT):c.703C>T (p.His235Tyr)	ANAPC15, LRTOMT +1 more (H268Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 306002	NM_001393500.2(TOMT):c.761A>G (p.Tyr254Cys)	ANAPC15, LRTOMT +1 more (Y287C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306003	NM_001393500.2(TOMT):c.773G>A (p.Gly258Asp)	ANAPC15, LRTOMT +1 more (G291D +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881378	NM_001393500.2(TOMT):c.*205C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881379	NM_001393500.2(TOMT):c.*244C>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306004	NM_001393500.2(TOMT):c.*255G>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 306005	NM_001393500.2(TOMT):c.*262CT[1]	ANAPC15, LRTOMT +1 more	Microsatellite (intron variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 306006	NM_001393500.2(TOMT):c.*336C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306007	NM_001393500.2(TOMT):c.*379C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GLikely benign
Select item 881824	NM_001393500.2(TOMT):c.*400C>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306008	NM_001393500.2(TOMT):c.*437T>C	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882974	NM_001393500.2(TOMT):c.*580C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306009	NM_001393500.2(TOMT):c.*601A>C	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306010	NM_001393500.2(TOMT):c.*622C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882975	NM_001393500.2(TOMT):c.*638C>T	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882976	NM_014042.3(ANAPC15):c.*105C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882977	NM_014042.3(ANAPC15):c.*96C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306011	NM_014042.3(ANAPC15):c.*79A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 306012	NM_014042.3(ANAPC15):c.318+47C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306013	NM_014042.3(ANAPC15):c.318+3A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306014	NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu)	ANAPC15, LRTOMT (P99L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 883772	NM_014042.3(ANAPC15):c.256A>T (p.Met86Leu)	ANAPC15, LRTOMT (M86L +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306015	NM_014042.3(ANAPC15):c.216T>C (p.Asp72=)	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	Nonsyndromic Hearing Loss, Recessive	GLikely benign
Select item 306016	NM_014042.3(ANAPC15):c.181-63G>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306017	NM_014042.3(ANAPC15):c.181-96dup	ANAPC15, LRTOMT	Duplication (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 881433	NM_014042.3(ANAPC15):c.180+131A>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881434	NM_014042.3(ANAPC15):c.180+75T>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306018	NM_014042.3(ANAPC15):c.180+38G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 881435	NM_014042.3(ANAPC15):c.180+11C>G	LRTOMT, ANAPC15	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306019	NM_014042.3(ANAPC15):c.121-95G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306020	NM_014042.3(ANAPC15):c.121-110G>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306021	NM_014042.3(ANAPC15):c.121-132T>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance

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Items: 46