TTYH1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3330166	NM_020659.4(TTYH1):c.62G>A (p.Arg21His)	TTYH1 (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184677	NM_020659.4(TTYH1):c.65C>T (p.Ala22Val)	TTYH1 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523380	NM_020659.4(TTYH1):c.188C>T (p.Ala63Val)	TTYH1 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395273	NM_020659.4(TTYH1):c.194A>G (p.Tyr65Cys)	TTYH1 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330169	NM_020659.4(TTYH1):c.229C>A (p.Pro77Thr)	TTYH1 (P77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299821	NM_020659.4(TTYH1):c.389A>G (p.Asn130Ser)	TTYH1 (N130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598717	NM_020659.4(TTYH1):c.391C>A (p.His131Asn)	TTYH1 (H131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542752	NM_020659.4(TTYH1):c.407T>C (p.Ile136Thr)	TTYH1 (I136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558195	NM_020659.4(TTYH1):c.562G>A (p.Gly188Arg)	TTYH1 (G188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589077	NM_020659.4(TTYH1):c.639G>A (p.Arg213=)	TTYH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3330168	NM_020659.4(TTYH1):c.652G>A (p.Val218Ile)	TTYH1 (V218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609652	NM_020659.4(TTYH1):c.685C>G (p.Leu229Val)	TTYH1 (L229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554418	NM_020659.4(TTYH1):c.763G>A (p.Val255Ile)	TTYH1 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184678	NM_020659.4(TTYH1):c.764T>C (p.Val255Ala)	TTYH1 (V255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495190	NM_020659.4(TTYH1):c.793G>T (p.Ala265Ser)	TTYH1 (A265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530109	NM_020659.4(TTYH1):c.805G>A (p.Val269Met)	TTYH1 (V269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598083	NM_020659.4(TTYH1):c.808G>A (p.Gly270Ser)	TTYH1 (G270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280852	NM_020659.4(TTYH1):c.901C>T (p.Leu301Phe)	TTYH1 (L301F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330167	NM_020659.4(TTYH1):c.961G>T (p.Ala321Ser)	TTYH1 (A321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512748	NM_020659.4(TTYH1):c.989T>G (p.Leu330Arg)	LOC112553114, TTYH1 (L330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260780	NM_020659.4(TTYH1):c.1244G>A (p.Arg415Gln)	TTYH1 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184675	NM_020659.4(TTYH1):c.1324C>T (p.Arg442Cys)	TTYH1 (R442C +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3184676	NM_020659.4(TTYH1):c.*33C>T	TTYH1 (S447F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410416	NM_020659.4(TTYH1):c.*33C>A	TTYH1 (S447Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383912	NM_020659.4(TTYH1):c.*59C>T	TTYH1 (R456W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47