ClinVar for Gene (Select 10181) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313308	NM_005778.4(RBM5):c.922A>G (p.Ile308Val)	RBM5 (I308V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313307	NM_005778.4(RBM5):c.450G>T (p.Leu150Phe)	LOC129389076, RBM5 +1 more (L150F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3152442	NM_005778.4(RBM5):c.928G>A (p.Val310Ile)	RBM5 (V310I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152441	NM_005778.4(RBM5):c.363C>A (p.Phe121Leu)	RBM5, RBM5-AS1 (F121L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3152440	NM_005778.4(RBM5):c.2332C>T (p.Arg778Trp)	RBM5, SEMA3F-AS1 (R778W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152439	NM_005778.4(RBM5):c.2178T>A (p.Phe726Leu)	RBM5, SEMA3F-AS1 (F726L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3152437	NM_005778.4(RBM5):c.1561C>T (p.Pro521Ser)	RBM5 (P521S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152436	NM_005778.4(RBM5):c.1534A>G (p.Ser512Gly)	RBM5 (S512G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152435	NM_005778.4(RBM5):c.1358A>G (p.Lys453Arg)	RBM5 (K453R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2690964	NM_005778.4(RBM5):c.217G>A (p.Glu73Lys)	RBM5 (E73K)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2606487	NM_005778.4(RBM5):c.2357C>T (p.Ala786Val)	RBM5, SEMA3F-AS1 (A786V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554954	NM_005778.4(RBM5):c.2291G>A (p.Arg764Gln)	RBM5, SEMA3F-AS1 (R764Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2507022	NM_005778.4(RBM5):c.853A>G (p.Met285Val)	RBM5 (M285V)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2495273	NM_005778.4(RBM5):c.190C>T (p.Arg64Cys)	RBM5 (R64C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458644	NM_005778.4(RBM5):c.1277C>T (p.Pro426Leu)	RBM5 (P426L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457036	NM_005778.4(RBM5):c.1217C>T (p.Ala406Val)	RBM5 (A406V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2396297	NM_005778.4(RBM5):c.1398A>C (p.Glu466Asp)	RBM5 (E466D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337900	NM_005778.4(RBM5):c.160T>C (p.Tyr54His)	RBM5 (Y54H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319013	NM_005778.4(RBM5):c.1778C>T (p.Ala593Val)	RBM5 (A593V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209713	NM_005778.4(RBM5):c.1193G>T (p.Gly398Val)	RBM5 (G398V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 1056363	NC_000003.11:g.(?_50154507)_(50295122_?)dup	GNAI2, GNAT1 +4 more	Duplication	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30