ClinVar for Gene (Select 153830) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155071	NM_001199383.2(RNF145):c.622G>A (p.Val208Ile)	RNF145 (V238I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155070	NM_001199383.2(RNF145):c.1952A>C (p.His651Pro)	RNF145 (H651P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155069	NM_001199383.2(RNF145):c.1037T>G (p.Leu346Arg)	RNF145 (L363R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591681	NM_001199383.2(RNF145):c.1958C>A (p.Ala653Glu)	RNF145 (A683E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538363	NM_001199383.2(RNF145):c.1907G>T (p.Arg636Leu)	RNF145 (R650L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480497	NM_001199383.2(RNF145):c.766C>T (p.Arg256Cys)	RNF145 (R256C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383604	NM_001199383.2(RNF145):c.1877C>G (p.Ser626Cys)	RNF145 (S626C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359680	NM_001199383.2(RNF145):c.515A>G (p.Asn172Ser)	RNF145 (N202S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345128	NM_001199380.2(RNF145):c.47T>G (p.Leu16Arg)	RNF145 (L16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319739	NM_001199383.2(RNF145):c.1069A>G (p.Met357Val)	RNF145 (M357V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294128	NM_001199383.2(RNF145):c.511A>C (p.Ile171Leu)	RNF145 (I185L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286551	NM_001199383.2(RNF145):c.1777C>G (p.Leu593Val)	RNF145 (L610V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284234	NM_001199383.2(RNF145):c.1979T>A (p.Val660Asp)	RNF145 (V674D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278456	NM_001199383.2(RNF145):c.1928C>T (p.Ala643Val)	RNF145 (A643V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222058	NM_001199383.2(RNF145):c.-32C>T	RNF145 (S20F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218943	NM_001199383.2(RNF145):c.1297T>A (p.Leu433Ile)	LOC126807570, RNF145 (L433I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	CYFIP2, MIR146A +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 687970	GRCh37/hg19 5q33.3(chr5:158423338-159076314)x3	EBF1, IL12B +2 more	Copy number gain	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	ADRA1B, ATP10B +107 more	Copy number loss	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36