TTYH2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 152569	GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign/Likely benign
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
Select item 3184690	NM_032646.6(TTYH2):c.93C>G (p.Asn31Lys)	TTYH2 (N31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184685	NM_032646.6(TTYH2):c.177C>A (p.Asn59Lys)	TTYH2 (N38K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378736	NM_032646.6(TTYH2):c.188T>C (p.Leu63Pro)	TTYH2 (L63P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330173	NM_032646.6(TTYH2):c.220C>T (p.Arg74Trp)	TTYH2 (R53W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308714	NM_032646.6(TTYH2):c.229G>A (p.Asp77Asn)	TTYH2 (D56N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282395	NM_032646.6(TTYH2):c.250C>T (p.His84Tyr)	TTYH2 (H63Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325416	NM_032646.6(TTYH2):c.277G>T (p.Ala93Ser)	TTYH2 (A72S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360809	NM_032646.6(TTYH2):c.280G>A (p.Val94Met)	TTYH2 (V73M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184686	NM_032646.6(TTYH2):c.289G>A (p.Gly97Arg)	TTYH2 (G76R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490032	NM_032646.6(TTYH2):c.317T>A (p.Val106Asp)	TTYH2 (V106D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230242	NM_032646.6(TTYH2):c.337G>A (p.Glu113Lys)	TTYH2 (E113K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403380	NM_032646.6(TTYH2):c.353C>T (p.Ala118Val)	TTYH2 (A118V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316121	NM_032646.6(TTYH2):c.378C>G (p.Asp126Glu)	TTYH2 (D105E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184687	NM_032646.6(TTYH2):c.386A>G (p.Asn129Ser)	TTYH2 (N108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207332	NM_032646.6(TTYH2):c.410C>T (p.Ala137Val)	TTYH2 (A137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184688	NM_032646.6(TTYH2):c.466C>T (p.Arg156Trp)	TTYH2 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330175	NM_032646.6(TTYH2):c.493G>A (p.Gly165Ser)	TTYH2 (G165S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265896	NM_032646.6(TTYH2):c.524A>G (p.Gln175Arg)	TTYH2 (Q154R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239248	NM_032646.6(TTYH2):c.542T>A (p.Val181Asp)	TTYH2 (V160D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620198	NM_032646.6(TTYH2):c.557C>T (p.Ser186Leu)	TTYH2 (S165L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514455	NM_032646.6(TTYH2):c.568G>A (p.Val190Met)	TTYH2 (V190M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610843	NM_032646.6(TTYH2):c.598A>C (p.Lys200Gln)	TTYH2 (K179Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330174	NM_032646.6(TTYH2):c.674T>A (p.Val225Asp)	TTYH2 (V204D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648188	NM_032646.6(TTYH2):c.798G>A (p.Ala266=)	TTYH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533875	NM_032646.6(TTYH2):c.950G>A (p.Arg317His)	TTYH2 (R317H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403159	NM_032646.6(TTYH2):c.952G>A (p.Ala318Thr)	TTYH2 (A297T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335789	NM_032646.6(TTYH2):c.1087G>A (p.Ala363Thr)	TTYH2 (A42T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457009	NM_032646.6(TTYH2):c.1103G>A (p.Arg368Gln)	TTYH2 (R368Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648189	NM_032646.6(TTYH2):c.1197C>T (p.Ala399=)	TTYH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184680	NM_032646.6(TTYH2):c.1222T>G (p.Cys408Gly)	TTYH2 (C387G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648190	NM_032646.6(TTYH2):c.1239C>T (p.Ala413=)	TTYH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184681	NM_032646.6(TTYH2):c.1264A>G (p.Arg422Gly)	TTYH2 (R101G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549183	NM_032646.6(TTYH2):c.1279A>G (p.Ile427Val)	TTYH2 (I427V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258190	NM_032646.6(TTYH2):c.1315C>T (p.Arg439Cys)	TTYH2 (R118C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516506	NM_032646.6(TTYH2):c.1316G>A (p.Arg439His)	TTYH2 (R418H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330170	NM_032646.6(TTYH2):c.1337C>T (p.Pro446Leu)	TTYH2 (P125L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379761	NM_032646.6(TTYH2):c.1345C>G (p.Gln449Glu)	TTYH2 (Q428E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281771	NM_032646.6(TTYH2):c.1348C>G (p.Leu450Val)	TTYH2 (L429V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390615	NM_032646.6(TTYH2):c.1360T>G (p.Cys454Gly)	TTYH2 (C133G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458555	NM_032646.6(TTYH2):c.1406C>T (p.Pro469Leu)	TTYH2 (P148L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184683	NM_032646.6(TTYH2):c.1442A>G (p.Tyr481Cys)	TTYH2 (Y160C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329042	NM_032646.6(TTYH2):c.1465G>A (p.Gly489Ser)	TTYH2 (G168S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458711	NM_032646.6(TTYH2):c.1489G>A (p.Val497Met)	TTYH2 (V476M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184684	NM_032646.6(TTYH2):c.1558G>C (p.Val520Leu)	TTYH2 (V499L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461722	NM_032646.6(TTYH2):c.1562C>T (p.Ala521Val)	TTYH2 (A200V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330171	NM_032646.6(TTYH2):c.1583A>T (p.Tyr528Phe)	TTYH2 (Y207F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360570	NM_032646.6(TTYH2):c.1585G>A (p.Gly529Arg)	TTYH2 (G508R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340830	GRCh37/hg19 17q25.1(chr17:71813960-72707349)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 815950	GRCh37/hg19 17q25.1(chr17:71811005-72681118)x3	BTBD17, CD300A +12 more	Copy number gain	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564470	GRCh37/hg19 17q25.1(chr17:71810700-72702515)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393984	GRCh37/hg19 17q25.1(chr17:71940807-72667784)x3	BTBD17, CD300A +12 more	Copy number gain	See cases	GLikely benign

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Items: 69