3087[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 146251	GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3	ABCC5, ABCC5-AS1 +41 more	Copy number gain	See cases	GLikely benign
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 2654304	NM_004423.4(DVL3):c.-6A>G	DVL3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2847207	NM_004423.4(DVL3):c.3G>T (p.Met1Ile)	DVL3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2919735	NM_004423.4(DVL3):c.5G>C (p.Gly2Ala)	DVL3 (G2A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726525	NM_004423.4(DVL3):c.6C>T (p.Gly2=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181942	NM_004423.4(DVL3):c.6C>G (p.Gly2=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778847	NM_004423.4(DVL3):c.27C>T (p.His9=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354288	NM_004423.4(DVL3):c.41A>G (p.Glu14Gly)	DVL3 (E14G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2786811	NM_004423.4(DVL3):c.54T>C (p.Leu18=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179317	NM_004423.4(DVL3):c.66C>T (p.Pro22=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535301	NM_004423.4(DVL3):c.80G>T (p.Arg27Leu)	DVL3 (R27L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1917138	NM_004423.4(DVL3):c.94G>A (p.Asp32Asn)	DVL3 (D32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632057	NM_004423.4(DVL3):c.120C>T (p.Pro40=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504901	NM_004423.4(DVL3):c.122G>A (p.Ser41Asn)	DVL3 (S41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942858	NM_004423.4(DVL3):c.145A>G (p.Met49Val)	DVL3 (M49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877461	NM_004423.4(DVL3):c.152A>G (p.Asp51Gly)	DVL3 (D51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961941	NM_004423.4(DVL3):c.153C>T (p.Asp51=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275331	NM_004423.4(DVL3):c.161+167C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222819	NM_004423.4(DVL3):c.162-211G>A	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219993	NM_004423.4(DVL3):c.162-203A>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607943	NM_004423.4(DVL3):c.162-17T>A	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800513	NM_004423.4(DVL3):c.162-16C>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1471272	NM_004423.4(DVL3):c.164T>C (p.Val55Ala)	DVL3 (V55A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1610523	NM_004423.4(DVL3):c.171G>A (p.Lys57=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 837273	NM_004423.4(DVL3):c.182C>T (p.Ser61Leu)	DVL3 (S61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784815	NM_004423.4(DVL3):c.187del (p.Asp63fs)	DVL3 (D63fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1438041	NM_004423.4(DVL3):c.190A>G (p.Asn64Asp)	DVL3 (N64D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 756528	NM_004423.4(DVL3):c.213T>C (p.Asn71=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155322	NM_004423.4(DVL3):c.217C>T (p.Arg73Trp)	DVL3 (R73W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2635126	NM_004423.4(DVL3):c.218G>A (p.Arg73Gln)	DVL3 (R73Q)	Single nucleotide variant (missense variant)	DVL3-related disorder	GUncertain significance
Select item 2133085	NM_004423.4(DVL3):c.225G>C (p.Val75=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1232840	NM_004423.4(DVL3):c.231+261A>G	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187829	NM_004423.4(DVL3):c.232-211C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778072	NM_004423.4(DVL3):c.232-19C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793622	NM_004423.4(DVL3):c.277G>A (p.Ala93Thr)	DVL3 (A93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744744	NM_004423.4(DVL3):c.279T>G (p.Ala93=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728145	NM_004423.4(DVL3):c.285C>T (p.Asn95=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1568339	NM_004423.4(DVL3):c.288A>T (p.Pro96=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664033	NM_004423.4(DVL3):c.292del (p.Glu98fs)	DVL3 (E98fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 715642	NM_004423.4(DVL3):c.291G>A (p.Ser97=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 782990	NM_004423.4(DVL3):c.306T>A (p.Pro102=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1547526	NM_004423.4(DVL3):c.314G>T (p.Arg105Leu)	DVL3 (R105L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2800242	NM_004423.4(DVL3):c.322G>A (p.Gly108Ser)	DVL3 (G108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927542	NM_004423.4(DVL3):c.327C>T (p.Ile109=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814405	NM_004423.4(DVL3):c.337C>T (p.Arg113Ter)	DVL3 (R113*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3048202	NM_004423.4(DVL3):c.339A>T (p.Arg113=)	DVL3	Single nucleotide variant (synonymous variant)	DVL3-related disorder	GLikely benign
Select item 2812312	NM_004423.4(DVL3):c.341C>T (p.Pro114Leu)	DVL3 (P114L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551317	NM_004423.4(DVL3):c.353+3G>A	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1606980	NM_004423.4(DVL3):c.353+7G>A	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542107	NM_004423.4(DVL3):c.353+17G>A	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960080	NM_004423.4(DVL3):c.353+19T>C	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1367858	NM_004423.4(DVL3):c.354-8C>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3041666	NM_004423.4(DVL3):c.354-6C>T	DVL3	Single nucleotide variant (intron variant)	DVL3-related disorder	GLikely benign
Select item 2654305	NM_004423.4(DVL3):c.354-1G>T	DVL3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 627534	NM_004423.4(DVL3):c.367G>A (p.Gly123Arg)	DVL3 (G123R)	Single nucleotide variant (missense variant)	Genu valgum +10 more	GLikely pathogenic
Select item 2353364	NM_004423.4(DVL3):c.371G>A (p.Gly124Asp)	DVL3 (G124D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3086405	NM_004423.4(DVL3):c.388G>C (p.Asp130His)	DVL3 (D130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729092	NM_004423.4(DVL3):c.395A>G (p.Asp132Gly)	DVL3 (D132G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2557419	NM_004423.4(DVL3):c.400G>C (p.Glu134Gln)	DVL3 (E134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1407911	NM_004423.4(DVL3):c.404C>T (p.Thr135Met)	DVL3 (T135M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814295	NM_004423.4(DVL3):c.407A>C (p.Asp136Ala)	DVL3 (D136A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045671	NM_004423.4(DVL3):c.427C>A (p.Arg143=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958586	NM_004423.4(DVL3):c.433C>T (p.Arg145Trp)	DVL3 (R145W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605410	NM_004423.4(DVL3):c.440G>A (p.Arg147His)	DVL3 (R147H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1425502	NM_004423.4(DVL3):c.443G>A (p.Arg148Gln)	DVL3 (R148Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086406	NM_004423.4(DVL3):c.446G>A (p.Arg149Lys)	DVL3 (R149K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1596630	NM_004423.4(DVL3):c.457G>C (p.Glu153Gln)	DVL3 (E153Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1631615	NM_004423.4(DVL3):c.464-17G>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660501	NM_004423.4(DVL3):c.464-13C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2482080	NM_004423.4(DVL3):c.466A>T (p.Thr156Ser)	DVL3 (T156S)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2822723	NM_004423.4(DVL3):c.468C>G (p.Thr156=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443235	NM_004423.4(DVL3):c.470G>A (p.Arg157Gln)	DVL3 (R157Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1008276	NM_004423.4(DVL3):c.470G>T (p.Arg157Leu)	DVL3 (R157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402946	NM_004423.4(DVL3):c.485C>T (p.Ala162Val)	DVL3 (A162V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1595412	NM_004423.4(DVL3):c.486G>A (p.Ala162=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623689	NM_004423.4(DVL3):c.490G>T (p.Gly164Trp)	DVL3 (G164W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1518953	NM_004423.4(DVL3):c.496C>T (p.Arg166Trp)	DVL3 (R166W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2986157	NM_004423.4(DVL3):c.500G>A (p.Arg167Gln)	DVL3 (R167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 740322	NM_004423.4(DVL3):c.501G>A (p.Arg167=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086407	NM_004423.4(DVL3):c.503G>A (p.Arg168Gln)	DVL3 (R168Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524154	NM_004423.4(DVL3):c.508C>G (p.Pro170Ala)	DVL3 (P170A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1989605	NM_004423.4(DVL3):c.516T>G (p.Gly172=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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