Related gene-specific medical variations for Gene (Select 283521) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264276	NM_031290.4(CCDC70):c.385A>T (p.Asn129Tyr)	CCDC70, TMEM272 (N129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264275	NM_031290.4(CCDC70):c.91A>G (p.Met31Val)	CCDC70, TMEM272 (M31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139327	NM_031290.4(CCDC70):c.56C>T (p.Ala19Val)	CCDC70, TMEM272 (A19V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139326	NM_031290.4(CCDC70):c.479T>C (p.Leu160Pro)	CCDC70, TMEM272 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139325	NM_031290.4(CCDC70):c.14A>G (p.Lys5Arg)	CCDC70, TMEM272 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139324	NM_031290.4(CCDC70):c.407G>A (p.Arg136Gln)	CCDC70, TMEM272 (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139323	NM_031290.4(CCDC70):c.325A>G (p.Thr109Ala)	CCDC70, TMEM272 (T109A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139322	NM_031290.4(CCDC70):c.287T>G (p.Phe96Cys)	CCDC70, TMEM272 (F96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139321	NM_031290.4(CCDC70):c.182T>G (p.Phe61Cys)	CCDC70, TMEM272 (F61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139320	NM_031290.4(CCDC70):c.135A>C (p.Lys45Asn)	CCDC70, TMEM272 (K45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618141	NM_031290.4(CCDC70):c.13A>G (p.Lys5Glu)	CCDC70, TMEM272 (K5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491102	NM_031290.4(CCDC70):c.622G>A (p.Ala208Thr)	CCDC70, TMEM272 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466125	NM_031290.4(CCDC70):c.412C>T (p.Leu138Phe)	CCDC70, TMEM272 (L138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394345	NM_031290.4(CCDC70):c.344G>A (p.Arg115His)	CCDC70, TMEM272 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379297	NM_031290.4(CCDC70):c.76C>T (p.Arg26Cys)	CCDC70, TMEM272 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374610	NM_031290.4(CCDC70):c.-14G>A	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2371667	NM_031290.4(CCDC70):c.-24C>T	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2365826	NM_031290.4(CCDC70):c.13A>C (p.Lys5Gln)	CCDC70, TMEM272 (K5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353534	NM_031290.4(CCDC70):c.575A>G (p.Asn192Ser)	CCDC70, TMEM272 (N192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321829	NM_031290.4(CCDC70):c.115G>T (p.Ala39Ser)	CCDC70, TMEM272 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308528	NM_031290.4(CCDC70):c.637C>T (p.Arg213Cys)	CCDC70, TMEM272 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306682	NM_031290.4(CCDC70):c.73A>T (p.Ile25Phe)	CCDC70, TMEM272 (I25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256948	NM_031290.4(CCDC70):c.570G>T (p.Glu190Asp)	CCDC70, TMEM272 (E190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219461	NM_031290.4(CCDC70):c.363T>A (p.Asp121Glu)	CCDC70, TMEM272 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210853	NM_031290.4(CCDC70):c.463G>C (p.Glu155Gln)	CCDC70, TMEM272 (E155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206164	NM_031290.4(CCDC70):c.655C>G (p.Arg219Gly)	CCDC70, TMEM272 (R219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883612	NM_000053.4(ATP7B):c.*1124C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883611	NM_000053.4(ATP7B):c.*1128G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883610	NM_000053.4(ATP7B):c.*1170C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883609	NM_000053.4(ATP7B):c.*1206G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883608	NM_000053.4(ATP7B):c.*1240T>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882861	NM_000053.4(ATP7B):c.*668C>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882860	NM_000053.4(ATP7B):c.*767T>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882822	NM_000053.4(ATP7B):c.*1286G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882821	NM_000053.4(ATP7B):c.*1423T>C	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881714	NM_000053.4(ATP7B):c.*833A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881713	NM_000053.4(ATP7B):c.*843C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881712	NM_000053.4(ATP7B):c.*920G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881711	NM_000053.4(ATP7B):c.*1005G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881670	NM_000053.4(ATP7B):c.*1618G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881669	NM_000053.4(ATP7B):c.*1744C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GLikely benign
Select item 881668	NM_000053.4(ATP7B):c.*1746C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881254	NM_000053.4(ATP7B):c.*1019A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881253	NM_000053.4(ATP7B):c.*1104C>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881201	NM_000053.4(ATP7B):c.*1773C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312371	NM_000053.4(ATP7B):c.*421C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312370	NM_000053.4(ATP7B):c.*510G>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312369	NM_000053.4(ATP7B):c.*781T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312368	NM_000053.4(ATP7B):c.*786T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312367	NM_000053.4(ATP7B):c.*851T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312366	NM_000053.4(ATP7B):c.*870C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312365	NM_000053.4(ATP7B):c.*963C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312364	NM_000053.4(ATP7B):c.994_997del	ATP7B, TMEM272	Deletion (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312363	NM_000053.4(ATP7B):c.*1005G>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312362	NM_000053.4(ATP7B):c.*1009G>A	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GLikely benign
Select item 312361	NM_000053.4(ATP7B):c.*1014A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312360	NM_000053.4(ATP7B):c.*1036C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312359	NM_000053.4(ATP7B):c.*1076A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312358	NM_000053.4(ATP7B):c.*1095C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312357	NM_000053.4(ATP7B):c.*1172G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312356	NM_000053.4(ATP7B):c.*1182C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GBenign
Select item 312355	NM_000053.4(ATP7B):c.*1265A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312354	NM_000053.4(ATP7B):c.*1385G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312353	NM_000053.4(ATP7B):c.*1409A>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312352	NM_000053.4(ATP7B):c.*1491A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312351	NM_000053.4(ATP7B):c.*1493T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312350	NM_000053.4(ATP7B):c.*1499A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312349	NM_000053.4(ATP7B):c.*1558T>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312348	NM_000053.4(ATP7B):c.*1592T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312347	NM_000053.4(ATP7B):c.*1659A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312346	NM_000053.4(ATP7B):c.*1708A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312345	NM_000053.4(ATP7B):c.*1717G>T	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GBenign
Select item 312344	NM_000053.4(ATP7B):c.*1756T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312343	NM_000053.4(ATP7B):c.*1782C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312342	NM_000053.4(ATP7B):c.*1782del	ATP7B, TMEM272	Deletion (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312341	NM_000053.4(ATP7B):c.*1805C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312340	NM_000053.4(ATP7B):c.*1901G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance

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Links from Gene

Items: 77