10019[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +258 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	BPHL, C6orf201 +255 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	BPHL, C6orf201 +255 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +211 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +310 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	LOC129995619, LOC129995620 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 1432706	NM_001354930.2(RIPK1):c.2T>A (p.Met1Lys)	RIPK1 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1533206	NM_001354930.2(RIPK1):c.27C>G (p.Val9=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1610301	NM_001354930.2(RIPK1):c.40T>G (p.Ser14Ala)	RIPK1 (S14A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2006477	NM_001354930.2(RIPK1):c.41C>T (p.Ser14Phe)	RIPK1 (S14F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1580741	NM_001354930.2(RIPK1):c.42C>T (p.Ser14=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1999073	NM_001354930.2(RIPK1):c.71A>C (p.Asp24Ala)	RIPK1 (D24A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2200552	NM_001354930.2(RIPK1):c.75C>T (p.Ser25=)	RIPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099403	NM_001354930.2(RIPK1):c.76G>A (p.Gly26Arg)	RIPK1 (G26R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3061239	NM_001354930.2(RIPK1):c.82_84delinsCTC (p.Phe28Leu)	RIPK1 (F28L)	Indel (5 prime UTR variant +1 more)	RIPK1-related disorder	GUncertain significance
Select item 1445799	NM_001354930.2(RIPK1):c.82T>C (p.Phe28Leu)	RIPK1 (F28L)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 57 +2 more	GUncertain significance
Select item 1520162	NM_001354930.2(RIPK1):c.84_85inv (p.Gly29Arg)	RIPK1 (G29R)	Inversion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1166905	NM_001354930.2(RIPK1):c.84T>C (p.Phe28=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 2980626	NM_001354930.2(RIPK1):c.95C>T (p.Ser32Phe)	RIPK1 (S32F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1153124	NM_001354930.2(RIPK1):c.99G>A (p.Leu33=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2046084	NM_001354930.2(RIPK1):c.114C>T (p.Thr38=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1900774	NM_001354930.2(RIPK1):c.117G>A (p.Gln39=)	RIPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1523087	NM_001354930.2(RIPK1):c.126G>A (p.Met42Ile)	RIPK1 (M42I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 809859	NM_001354930.2(RIPK1):c.127A>T (p.Ile43Phe)	RIPK1 (I43F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2697539	NM_001354930.2(RIPK1):c.130A>C (p.Met44Leu)	RIPK1 (M44L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3154515	NM_001354930.2(RIPK1):c.140T>C (p.Val47Ala)	RIPK1 (V47A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1661610	NM_001354930.2(RIPK1):c.144C>T (p.Tyr48=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2021608	NM_001354930.2(RIPK1):c.150G>A (p.Gly50=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1405393	NM_001354930.2(RIPK1):c.151C>T (p.Pro51Ser)	RIPK1 (P51S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2164101	NM_001354930.2(RIPK1):c.155A>G (p.Asn52Ser)	RIPK1 (N52S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2105213	NM_001354930.2(RIPK1):c.161T>C (p.Ile54Thr)	RIPK1 (I54T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1658447	NM_001354930.2(RIPK1):c.164+14del	RIPK1	Deletion (intron variant)	not provided	GBenign
Select item 1670022	NM_001354930.2(RIPK1):c.165-16C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502198	NM_001354930.2(RIPK1):c.165-9T>G	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813881	NM_001354930.2(RIPK1):c.165-6C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1354505	NM_001354930.2(RIPK1):c.165-3C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1486472	NM_001354930.2(RIPK1):c.168C>T (p.His56=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1608895	NM_001354930.2(RIPK1):c.171C>T (p.Asn57=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1413183	NM_001354930.2(RIPK1):c.172G>A (p.Glu58Lys)	RIPK1 (E58K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064840	NM_001354930.2(RIPK1):c.175G>C (p.Ala59Pro)	RIPK1 (A59P)	Single nucleotide variant (5 prime UTR variant +1 more)	Autoinflammation with episodic fever and lymphadenopathy	GLikely benign
Select item 1524172	NM_001354930.2(RIPK1):c.178C>G (p.Leu60Val)	RIPK1 (L60V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1424981	NM_001354930.2(RIPK1):c.187G>T (p.Glu63Ter)	RIPK1 (E63*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1419800	NM_001354930.2(RIPK1):c.191C>T (p.Ala64Val)	RIPK1 (A64V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1938990	NM_001354930.2(RIPK1):c.192G>A (p.Ala64=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2737644	NM_001354930.2(RIPK1):c.201G>T (p.Met67Ile)	RIPK1 (M67I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2705580	NM_001354930.2(RIPK1):c.208C>G (p.Leu70Val)	RIPK1 (L70V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1175735	NM_001354930.2(RIPK1):c.212G>C (p.Arg71Thr)	RIPK1 (R71T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1385045	NM_001354930.2(RIPK1):c.221G>A (p.Arg74Gln)	RIPK1 (R74Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2060346	NM_001354930.2(RIPK1):c.225G>A (p.Val75=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2844468	NM_001354930.2(RIPK1):c.226G>A (p.Val76Met)	RIPK1 (V76M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2252322	NM_001354930.2(RIPK1):c.231G>T (p.Lys77Asn)	RIPK1 (K77N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2852685	NM_001354930.2(RIPK1):c.237G>A (p.Leu79=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1593721	NM_001354930.2(RIPK1):c.240C>T (p.Gly80=)	RIPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1396782	NM_001354930.2(RIPK1):c.241G>A (p.Val81Ile)	RIPK1 (V81I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1949945	NM_001354930.2(RIPK1):c.252G>T (p.Glu84Asp)	RIPK1 (E84D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2891039	NM_001354930.2(RIPK1):c.267C>T (p.Ser89=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1948504	NM_001354930.2(RIPK1):c.268C>T (p.Leu90=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1587032	NM_001354930.2(RIPK1):c.270G>T (p.Leu90=)	RIPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909725	NM_001354930.2(RIPK1):c.289A>G (p.Lys97Glu)	RIPK1 (K97E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1362424	NM_001354930.2(RIPK1):c.290A>G (p.Lys97Arg)	RIPK1 (K97R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3009179	NM_001354930.2(RIPK1):c.291G>A (p.Lys97=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2555918	NM_001354930.2(RIPK1):c.292G>A (p.Gly98Ser)	RIPK1 (G98S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2418380	NM_001354930.2(RIPK1):c.293G>A (p.Gly98Asp)	RIPK1 (G98D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1909721	NM_001354930.2(RIPK1):c.306C>T (p.His102=)	RIPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1543689	NM_001354930.2(RIPK1):c.309G>C (p.Val103=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3002185	NM_001354930.2(RIPK1):c.310C>T (p.Leu104=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1513599	NM_001354930.2(RIPK1):c.310C>G (p.Leu104Val)	RIPK1 (L104V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2908724	NM_001354930.2(RIPK1):c.317C>T (p.Ala106Val)	RIPK1 (A106V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1572295	NM_001354930.2(RIPK1):c.318C>T (p.Ala106=)	RIPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952736	NM_001354930.2(RIPK1):c.319G>C (p.Glu107Gln)	RIPK1 (E107Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1930243	NM_001354930.2(RIPK1):c.319G>A (p.Glu107Lys)	RIPK1 (E107K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1466119	NM_001354930.2(RIPK1):c.321+3dup	RIPK1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1561058	NM_001354930.2(RIPK1):c.321+8G>C	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658606	NM_001354930.2(RIPK1):c.321+14del	RIPK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1628173	NM_001354930.2(RIPK1):c.321+13_321+14del	RIPK1	Deletion (intron variant)	not provided	GLikely benign
Select item 2755172	NM_001354930.2(RIPK1):c.321+12C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009515	NM_001354930.2(RIPK1):c.321+13C>G	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978532	NM_001354930.2(RIPK1):c.321+14C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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