80000[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 148594	GRCh38/hg38 18q11.1(chr18:21085601-21414565)x1	GREB1L, GREB1L-DT +6 more	Copy number loss	See cases	GUncertain significance
Select item 3042873	NM_001142966.3(GREB1L):c.-7G>A	GREB1L, LOC101927521	Single nucleotide variant (5 prime UTR variant)	GREB1L-related disorder	GBenign
Select item 1903578	NM_001142966.3(GREB1L):c.14A>G (p.Tyr5Cys)	GREB1L, LOC101927521 (Y5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801036	NM_001142966.3(GREB1L):c.20G>A (p.Gly7Glu)	GREB1L, LOC101927521 (G7E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690950	NM_001142966.3(GREB1L):c.23A>C (p.Gln8Pro)	GREB1L, LOC101927521 (Q8P)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 684652	NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter)	GREB1L, LOC101927521 (R13*)	Single nucleotide variant (nonsense)	Renal agenesis and hypodysplasia	Gassociation
Select item 2971969	NM_001142966.3(GREB1L):c.74C>T (p.Ser25Phe)	GREB1L, LOC101927521 (S25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179494	NM_001142966.3(GREB1L):c.92T>G (p.Val31Gly)	GREB1L, LOC101927521 (V31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023415	NM_001142966.3(GREB1L):c.94G>A (p.Val32Ile)	GREB1L, LOC101927521 (V32I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1932138	NM_001142966.3(GREB1L):c.97C>G (p.Pro33Ala)	GREB1L, LOC101927521 (P33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599514	NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu)	GREB1L, LOC101927521 (F37L)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2743286	NM_001142966.3(GREB1L):c.157G>A (p.Asp53Asn)	GREB1L, LOC101927521 (D53N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982418	NM_001142966.3(GREB1L):c.157+1del	GREB1L, LOC101927521	Deletion (splice donor variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 2971701	NM_001142966.3(GREB1L):c.158-16T>C	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040799	NM_001142966.3(GREB1L):c.159T>C (p.Asp53=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1914947	NM_001142966.3(GREB1L):c.166C>A (p.Pro56Thr)	GREB1L, LOC101927521 (P56T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432267	NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu)	GREB1L, LOC101927521 (R68L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2168929	NM_001142966.3(GREB1L):c.203G>A (p.Arg68His)	GREB1L, LOC101927521 (R68H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432270	NM_001142966.3(GREB1L):c.226G>A (p.Asp76Asn)	GREB1L, LOC101927521 (D76N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917910	NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys)	GREB1L, LOC101927521 (E93K)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3234277	NM_001142966.3(GREB1L):c.297C>T (p.Asn99=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690951	NM_001142966.3(GREB1L):c.311C>T (p.Pro104Leu)	GREB1L, LOC101927521 (P104L)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 929431	NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile)	GREB1L, LOC101927521 (T116I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss	GUncertain significance
Select item 2175922	NM_001142966.3(GREB1L):c.374A>G (p.Lys125Arg)	GREB1L, LOC101927521 (K125R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684653	NM_001142966.3(GREB1L):c.383G>A (p.Arg128His)	GREB1L, LOC101927521 (R128H)	Single nucleotide variant (missense variant)	Renal agenesis and hypodysplasia	Gassociation
Select item 3239073	NM_001142966.3(GREB1L):c.390A>G (p.Val130=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050304	NM_001142966.3(GREB1L):c.409A>C (p.Ile137Leu)	GREB1L, LOC101927521 (I137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898835	NM_001142966.3(GREB1L):c.455A>G (p.Asn152Ser)	GREB1L, LOC101927521 (N152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052788	NM_001142966.3(GREB1L):c.510T>A (p.Asp170Glu)	GREB1L, LOC101927521 (D170E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2631696	NM_001142966.3(GREB1L):c.532+5G>A	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	GREB1L-related disorder	GUncertain significance
Select item 1637867	NM_001142966.3(GREB1L):c.532+12A>G	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1940625	NM_001142966.3(GREB1L):c.533-17G>A	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328379	NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)	LOC101927521, GREB1L (G185S)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2432266	NM_001142966.3(GREB1L):c.566G>A (p.Arg189Lys)	GREB1L, LOC101927521 (R189K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581335	NM_001142966.3(GREB1L):c.570dup (p.Phe191fs)	GREB1L, LOC101927521 (F191fs)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 2444479	NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)	GREB1L, LOC101927521 (R192Q)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2027920	NM_001142966.3(GREB1L):c.645A>G (p.Leu215=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068600	NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe)	GREB1L, LOC101927521 (S228F)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 80	GUncertain significance
Select item 1064690	NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys)	GREB1L, LOC101927521 (W235C)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 2188941	NM_001142966.3(GREB1L):c.722G>A (p.Arg241Gln)	GREB1L, LOC101927521 (R241Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3030149	NM_001142966.3(GREB1L):c.783C>T (p.Thr261=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 684657	NM_001142966.3(GREB1L):c.818G>T (p.Gly273Val)	GREB1L, LOC101927521 (G273V)	Single nucleotide variant (missense variant)	Renal agenesis and hypodysplasia	Gassociation
Select item 2075963	NM_001142966.3(GREB1L):c.833-5T>C	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2445216	NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val)	GREB1L, LOC101927521 (D278V +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 830361	NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser)	GREB1L, LOC101927521 (N283S)	Single nucleotide variant (missense variant)	Profound hearing impairment	GLikely pathogenic
Select item 2629744	NM_001142966.3(GREB1L):c.875C>T (p.Ala292Val)	GREB1L, LOC101927521 (A292V +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2802807	NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg)	GREB1L, LOC101927521 (G344R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632375	NM_001142966.3(GREB1L):c.920C>T (p.Pro307Leu)	GREB1L, LOC101927521 (P307L +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3022019	NM_001142966.3(GREB1L):c.950-13dup	GREB1L, LOC101927521	Duplication (intron variant)	not provided	GBenign
Select item 2887163	NM_001142966.3(GREB1L):c.962T>A (p.Ile321Asn)	GREB1L, LOC101927521 (I364N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627589	NM_001142966.3(GREB1L):c.968G>A (p.Gly323Glu)	LOC101927521, GREB1L (G323E +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 2630028	NM_001142966.3(GREB1L):c.974C>T (p.Pro325Leu)	LOC101927521, GREB1L (P325L +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 446526	NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter)	GREB1L, LOC101927521 (R328*)	Single nucleotide variant (nonsense)	Inner ear malformation +1 more	GPathogenic
Select item 453285	NM_001142966.3(GREB1L):c.983G>A (p.Arg328Gln)	GREB1L, LOC101927521 (R328Q)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 599513	NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)	LOC101927521, GREB1L (R330W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708595	NM_001142966.3(GREB1L):c.1013dup (p.Gln340fs)	GREB1L, LOC101927521 (Q340fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2084258	NM_001142966.3(GREB1L):c.1062A>G (p.Ser354=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2890841	NM_001142966.3(GREB1L):c.1068G>A (p.Thr356=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2970379	NM_001142966.3(GREB1L):c.1071G>A (p.Glu357=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819540	NM_001142966.3(GREB1L):c.1103C>G (p.Pro368Arg)	GREB1L, LOC101927521 (P368R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512867	NM_001142966.3(GREB1L):c.1124C>G (p.Pro375Arg)	GREB1L, LOC101927521 (P375R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066333	NM_001142966.3(GREB1L):c.1147_1153del (p.Thr383fs)	GREB1L, LOC101927521 (T383fs +1 more)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3061207	NM_001142966.3(GREB1L):c.1171C>G (p.Leu391Val)	GREB1L, LOC101927521 (L391V +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2883457	NM_001142966.3(GREB1L):c.1191A>G (p.Arg397=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043484	NM_001142966.3(GREB1L):c.1208-9T>C	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 1978442	NM_001142966.3(GREB1L):c.1265T>C (p.Leu422Pro)	GREB1L, LOC101927521 (L465P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049898	NM_001142966.3(GREB1L):c.1278C>G (p.Cys426Trp)	GREB1L, LOC101927521 (C426W +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GLikely benign
Select item 2777944	NM_001142966.3(GREB1L):c.1283A>G (p.Lys428Arg)	GREB1L, LOC101927521 (K471R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003852	NM_001142966.3(GREB1L):c.1322G>C (p.Gly441Ala)	GREB1L, LOC101927521 (G441A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564057	NM_001142966.3(GREB1L):c.1330G>A (p.Gly444Ser)	GREB1L, LOC101927521 (G444S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2628943	NM_001142966.3(GREB1L):c.1348G>A (p.Val450Met)	GREB1L, LOC101927521 (V450M +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2896949	NM_001142966.3(GREB1L):c.1370C>T (p.Thr457Met)	LOC101927521, GREB1L (T457M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2066798	NM_001142966.3(GREB1L):c.1388G>A (p.Arg463Gln)	GREB1L, LOC101927521 (R463Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2056022	NM_001142966.3(GREB1L):c.1394-6A>G	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1806446	NM_001142966.3(GREB1L):c.1426G>A (p.Glu476Lys)	GREB1L, LOC101927521 (E476K +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 80	GUncertain significance
Select item 1598584	NM_001142966.3(GREB1L):c.1438C>T (p.Leu480=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2727430	NM_001142966.3(GREB1L):c.1474G>C (p.Ala492Pro)	GREB1L, LOC101927521 (A492P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 684658	NM_001142966.3(GREB1L):c.1490C>G (p.Ala497Gly)	GREB1L, LOC101927521 (A497G)	Single nucleotide variant (missense variant)	Renal agenesis and hypodysplasia	Gassociation
Select item 2637112	NM_001142966.3(GREB1L):c.1505T>C (p.Val502Ala)	GREB1L, LOC101927521 (V502A +1 more)	Single nucleotide variant (missense variant +1 more)	GREB1L-related disorder	GUncertain significance
Select item 1175927	NM_001142966.3(GREB1L):c.1548C>T (p.Ser516=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968466	NM_001142966.3(GREB1L):c.1549G>A (p.Val517Ile)	GREB1L, LOC101927521 (V517I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444486	NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn)	GREB1L, LOC101927521 (D520N +1 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2130655	NM_001142966.3(GREB1L):c.1570G>A (p.Val524Met)	GREB1L, LOC101927521 (V567M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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