GDF11[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 2313078	NM_005811.5(GDF11):c.62G>C (p.Arg21Pro)	GDF11 (R21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054165	NM_005811.5(GDF11):c.87GGC[9] (p.Ala41del)	GDF11 (A41del)	Microsatellite (inframe deletion)	GDF11-related disorder	GLikely benign
Select item 3034015	NM_005811.5(GDF11):c.87GGC[7] (p.Ala39_Ala41del)	GDF11	Microsatellite (inframe deletion)	GDF11-related disorder	GLikely benign
Select item 2611428	NM_005811.5(GDF11):c.295G>A (p.Val99Met)	GDF11 (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066247	NM_005811.5(GDF11):c.303dup (p.Gln102fs)	GDF11 (Q102fs)	Duplication (frameshift variant)	Vertebral hypersegmentation and orofacial anomalies	GUncertain significance
Select item 2429215	NM_005811.5(GDF11):c.379G>A (p.Glu127Lys)	GDF11 (E127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251438	NM_005811.5(GDF11):c.442G>C (p.Glu148Gln)	GDF11 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511490	NM_005811.5(GDF11):c.625G>A (p.Ala209Thr)	GDF11 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044452	NM_005811.5(GDF11):c.629G>T (p.Gly210Val)	GDF11 (G210V)	Single nucleotide variant (missense variant)	GDF11-related disorder	GLikely benign
Select item 2542147	NM_005811.5(GDF11):c.637G>A (p.Gly213Ser)	GDF11 (G213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099232	NM_005811.5(GDF11):c.692G>A (p.Arg231His)	GDF11 (R231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614356	NM_005811.5(GDF11):c.722A>C (p.Lys241Thr)	GDF11 (K241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276583	NM_005811.5(GDF11):c.724C>G (p.Gln242Glu)	GDF11 (Q242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275550	NM_005811.5(GDF11):c.811G>A (p.Val271Ile)	GDF11 (V271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407136	NM_005811.5(GDF11):c.835G>A (p.Glu279Lys)	GDF11 (E279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982234	NM_005811.5(GDF11):c.893G>A (p.Arg298Gln)	GDF11 (R298Q)	Single nucleotide variant (missense variant)	Vertebral hypersegmentation and orofacial anomalies +1 more	GPathogenic/Likely pathogenic
Select item 1342144	NM_005811.5(GDF11):c.916G>A (p.Glu306Lys)	GDF11 (E306K)	Single nucleotide variant (missense variant)	Vertebral hypersegmentation and orofacial anomalies	GUncertain significance
Select item 2615026	NM_005811.5(GDF11):c.967G>C (p.Glu323Gln)	GDF11 (E323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701828	NM_005811.5(GDF11):c.1004G>A (p.Arg335His)	GDF11 (R335H)	Single nucleotide variant (missense variant)	Vertebral hypersegmentation and orofacial anomalies	GUncertain significance
Select item 522835	NM_005811.5(GDF11):c.1008C>G (p.Tyr336Ter)	GDF11 (Y336*)	Single nucleotide variant (nonsense)	GDF11-associated multiple congenital anomalies and ID	GUncertain significance
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 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

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Items: 28