ClinVar for Gene (Select 23508) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329919	NM_015351.2(TTC9):c.82C>T (p.Pro28Ser)	LOC130055991, TTC9 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184407	NM_015351.2(TTC9):c.625A>T (p.Met209Leu)	TTC9 (M209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184406	NM_015351.2(TTC9):c.596A>G (p.Asn199Ser)	TTC9 (N199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184405	NM_015351.2(TTC9):c.550C>T (p.Leu184Phe)	TTC9 (L184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184403	NM_015351.2(TTC9):c.308C>T (p.Pro103Leu)	LOC130055992, TTC9 (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184402	NM_015351.2(TTC9):c.284G>C (p.Gly95Ala)	LOC130055992, TTC9 (G95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2624379	NM_015351.2(TTC9):c.17C>T (p.Ser6Leu)	TTC9 (S6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607491	NM_015351.2(TTC9):c.122G>A (p.Arg41Lys)	LOC130055991, TTC9 (R41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556901	NM_015351.2(TTC9):c.193G>A (p.Ala65Thr)	LOC130055991, TTC9 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353456	NM_015351.2(TTC9):c.329T>C (p.Leu110Pro)	LOC130055992, TTC9 (L110P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351424	NM_015351.2(TTC9):c.23C>G (p.Ala8Gly)	TTC9 (A8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306645	NM_015351.2(TTC9):c.352G>A (p.Glu118Lys)	TTC9 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236446	NM_015351.2(TTC9):c.481G>C (p.Gly161Arg)	TTC9 (G161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 22