GDF3[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 2444805	NM_020634.3(GDF3):c.1091G>C (p.Gly364Ala)	GDF3 (G364A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228059	NM_020634.3(GDF3):c.1057T>C (p.Tyr353His)	GDF3 (Y353H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662775	NM_020634.3(GDF3):c.1035del (p.Asn345fs)	GDF3 (N345fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 471501	NM_020634.3(GDF3):c.982G>C (p.Val328Leu)	GDF3 (V328L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GBenign
Select item 68474	NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)	GDF3 (P325L)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6	GUncertain significance
Select item 2571707	NM_020634.3(GDF3):c.973C>A (p.Pro325Thr)	GDF3 (P325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423808	NM_020634.3(GDF3):c.914T>G (p.Leu305Arg)	GDF3 (L305R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30592	NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)	GDF3 (L305P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 657164	NM_020634.3(GDF3):c.910T>C (p.Ser304Pro)	GDF3 (S304P)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 2492307	NM_020634.3(GDF3):c.896T>A (p.Phe299Tyr)	GDF3 (F299Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30594	NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)	GDF3 (R274W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30591	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	GDF3 (R266C)	Single nucleotide variant (missense variant)	GDF3-related condition +6 more	GConflicting classifications of pathogenicity
Select item 2570441	NM_020634.3(GDF3):c.769A>G (p.Lys257Glu)	GDF3 (K257E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 946377	NM_020634.3(GDF3):c.751G>A (p.Ala251Thr)	GDF3 (A251T)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 2642681	NM_020634.3(GDF3):c.714C>T (p.Leu238=)	GDF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 538877	NM_020634.3(GDF3):c.709A>G (p.Thr237Ala)	GDF3 (T237A)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 3056871	NM_020634.3(GDF3):c.696C>A (p.Ser232=)	GDF3	Single nucleotide variant (synonymous variant)	GDF3-related condition	GLikely benign
Select item 1164810	NM_020634.3(GDF3):c.637G>A (p.Gly213Arg)	GDF3 (G213R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 717943	NM_020634.3(GDF3):c.635C>T (p.Ser212Leu)	GDF3 (S212L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GLikely benign
Select item 30593	NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)	GDF3 (R195Q)	Single nucleotide variant (missense variant)	Isolated microphthalmia 7	GPathogenic
Select item 767184	NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)	GDF3 (R195W)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant +3 more	GBenign/Likely benign
Select item 1562457	NM_020634.3(GDF3):c.579C>T (p.Asn193=)	GDF3	Single nucleotide variant (synonymous variant)	GDF3-related condition +1 more	GBenign
Select item 2466229	NM_020634.3(GDF3):c.560C>T (p.Ala187Val)	GDF3 (A187V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406677	NM_020634.3(GDF3):c.509G>A (p.Arg170Gln)	GDF3 (R170Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2304665	NM_020634.3(GDF3):c.482C>T (p.Pro161Leu)	GDF3 (P161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772340	NM_020634.3(GDF3):c.480C>T (p.Thr160=)	GDF3	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GLikely benign
Select item 2210303	NM_020634.3(GDF3):c.474G>T (p.Gln158His)	GDF3 (Q158H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412783	NM_020634.3(GDF3):c.434T>C (p.Leu145Pro)	GDF3 (L145P)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 779828	NM_020634.3(GDF3):c.306C>T (p.Ser102=)	GDF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3061942	NM_020634.3(GDF3):c.288G>T (p.Lys96Asn)	GDF3 (K96N)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 1181205	NM_020634.3(GDF3):c.269-73G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280731	NM_020634.3(GDF3):c.269-173A>G	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281150	NM_020634.3(GDF3):c.269-178G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285830	NM_020634.3(GDF3):c.269-196G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260011	NM_020634.3(GDF3):c.268+117G>A	GDF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637178	NM_020634.3(GDF3):c.268+1G>A	GDF3	Single nucleotide variant (splice donor variant)	GDF3-related condition	GUncertain significance
Select item 2535946	NM_020634.3(GDF3):c.266A>G (p.Gln89Arg)	GDF3 (Q89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533634	NM_020634.3(GDF3):c.235C>T (p.Arg79Cys)	GDF3 (R79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 191030	NM_020634.3(GDF3):c.232G>C (p.Val78Leu)	GDF3 (V78L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 766974	NM_020634.3(GDF3):c.201C>G (p.Ser67=)	GDF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406315	NM_020634.3(GDF3):c.194G>C (p.Gly65Ala)	GDF3 (G65A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1081207	NM_020634.3(GDF3):c.186G>A (p.Ala62=)	GDF3	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 3, autosomal dominant	GLikely benign
Select item 2600753	NM_020634.3(GDF3):c.185C>G (p.Ala62Gly)	GDF3 (A62G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717944	NM_020634.3(GDF3):c.174C>T (p.Arg58=)	GDF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373808	NM_020634.3(GDF3):c.173G>A (p.Arg58His)	GDF3 (R58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761725	NM_020634.3(GDF3):c.162T>A (p.Ile54=)	GDF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 642837	NM_020634.3(GDF3):c.161T>C (p.Ile54Thr)	GDF3 (I54T)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 1165048	NM_020634.3(GDF3):c.123C>G (p.Pro41=)	GDF3	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 3, autosomal dominant +1 more	GBenign
Select item 1308099	NM_020634.3(GDF3):c.8G>A (p.Arg3His)	GDF3 (R3H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225033	NC_000012.12:g.7695841C>T	GDF3	Single nucleotide variant	not provided	GBenign
Select item 1242934	NC_000012.12:g.7696031C>T	GDF3	Single nucleotide variant	not provided	GBenign
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	USP5, VAMP1 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	COPS7A, DPPA3 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C1RL, C1S +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	C1R, NINJ2 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	A2ML1, DPPA3 +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 979952	GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3	FAM90A1, NECAP1 +12 more	Copy number gain	not provided	GLikely benign
Select item 832123	NC_000012.12:g.(?_7689858)_(8096110_?)dup	GDF3, NANOG +8 more	Duplication	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	APOBEC1, ATN1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 685572	GRCh37/hg19 12p13.31(chr12:7815254-8013345)x1	APOBEC1, CLEC4C +5 more	Copy number loss	not provided	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 99