ClinVar for Gene (Select 332) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134032	NM_001168.3(BIRC5):c.394C>T (p.Arg132Cys)	BIRC5 (R155C +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3134031	NM_001168.3(BIRC5):c.355A>C (p.Asn119His)	BIRC5 (N142H +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3134030	NM_001168.3(BIRC5):c.253G>T (p.Ala85Ser)	BIRC5 (A108S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134029	NM_001168.3(BIRC5):c.23C>T (p.Pro8Leu)	BIRC5 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134028	NM_001168.3(BIRC5):c.222-682G>A	BIRC5 (A80T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024828	NM_001168.3(BIRC5):c.340-638G>A	BIRC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648339	NM_001168.3(BIRC5):c.*50G>C	BIRC5 (G121R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2648338	NM_001168.3(BIRC5):c.315C>T (p.Asp105=)	BIRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620882	NM_001168.3(BIRC5):c.76C>A (p.Pro26Thr)	BIRC5 (P26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530560	NM_001168.3(BIRC5):c.398G>A (p.Arg133His)	BIRC5 (R133H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487858	NM_001168.3(BIRC5):c.222-664A>T	BIRC5 (S86C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462715	NM_001168.3(BIRC5):c.397C>T (p.Arg133Cys)	BIRC5 (R133C +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2412098	NM_001168.3(BIRC5):c.247G>A (p.Gly83Ser)	BIRC5 (G83S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382232	NM_001168.3(BIRC5):c.242C>T (p.Ser81Leu)	BIRC5 (S81L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249326	NM_001168.3(BIRC5):c.222-671T>G	BIRC5 (C83W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221943	NM_001168.3(BIRC5):c.406G>A (p.Glu136Lys)	BIRC5 (E159K +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
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 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 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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 395416	GRCh37/hg19 17q25.3(chr17:76193188-76220266)x3	AFMID, BIRC5	Copy number gain	See cases	GLikely benign
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 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
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 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31