GDF9[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 1299519	NM_005260.7(GDF9):c.1364A>C (p.Ter455Ser)	GDF9	Single nucleotide variant (stop lost)	Premature ovarian failure 14	GLikely pathogenic
Select item 2571230	NM_005260.7(GDF9):c.1360C>T (p.Arg454Cys)	GDF9 (R366C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2663626	NM_005260.7(GDF9):c.1353C>T (p.Cys451=)	GDF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281151	NM_005260.7(GDF9):c.1333G>A (p.Asp445Asn)	GDF9 (D445N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593952	NM_005260.7(GDF9):c.1330G>T (p.Glu444Ter)	GDF9 (E444* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2568711	NM_005260.7(GDF9):c.1319A>G (p.Tyr440Cys)	GDF9 (Y440C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234590	NM_005260.7(GDF9):c.1303G>A (p.Asp435Asn)	GDF9 (D435N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256000	NM_005260.7(GDF9):c.1283G>C (p.Ser428Thr)	GDF9 (S340T +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 3045310	NM_005260.7(GDF9):c.1250C>T (p.Pro417Leu)	GDF9 (P329L +1 more)	Single nucleotide variant (missense variant)	GDF9-related disorder	GLikely benign
Select item 3067433	NM_005260.7(GDF9):c.1245A>C (p.Pro415=)	GDF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229952	NM_005260.7(GDF9):c.1232A>G (p.Asp411Gly)	GDF9 (D411G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281153	NM_005260.7(GDF9):c.1220A>C (p.Tyr407Ser)	GDF9 (Y407S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354247	NM_005260.7(GDF9):c.1124A>T (p.His375Leu)	GDF9 (H375L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255469	NM_005260.7(GDF9):c.1121C>T (p.Pro374Leu)	GDF9 (P374L +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 14	GPathogenic
Select item 3099269	NM_005260.7(GDF9):c.1088G>A (p.Ser363Asn)	GDF9 (S363N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316349	NM_005260.7(GDF9):c.1066C>T (p.His356Tyr)	GDF9 (H356Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099268	NM_005260.7(GDF9):c.1045C>G (p.Pro349Ala)	GDF9 (P261A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256006	NM_005260.7(GDF9):c.946C>T (p.Arg316Cys)	GDF9 (R228C +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2606298	NM_005260.7(GDF9):c.874G>T (p.Asp292Tyr)	GDF9 (D204Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378931	NM_005260.7(GDF9):c.848A>G (p.Tyr283Cys)	GDF9 (Y283C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255470	NM_005260.7(GDF9):c.794T>G (p.Leu265Ter)	GDF9 (L265* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 14	GPathogenic
Select item 545504	NM_005260.7(GDF9):c.783del (p.Ser262fs)	GDF9 (S262fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure 14	GPathogenic
Select item 3068062	NM_005260.7(GDF9):c.759_762del (p.Phe254fs)	GDF9 (F166fs +1 more)	Microsatellite (frameshift variant)	Premature ovarian failure 14	GLikely pathogenic
Select item 3099274	NM_005260.7(GDF9):c.749A>C (p.Gln250Pro)	GDF9 (Q162P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492046	NM_005260.7(GDF9):c.674C>T (p.Ala225Val)	GDF9 (A137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281154	NM_005260.7(GDF9):c.636T>G (p.Ile212Met)	GDF9 (I124M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804884	NM_005260.7(GDF9):c.604C>T (p.Gln202Ter)	GDF9 (Q114* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 14	GUncertain significance
Select item 3281150	NM_005260.7(GDF9):c.571G>A (p.Gly191Ser)	GDF9 (G103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361061	NM_005260.7(GDF9):c.562A>G (p.Arg188Gly)	GDF9 (R100G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137459	NM_005260.7(GDF9):c.546G>A (p.Glu182=)	GDF9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2489802	NM_005260.7(GDF9):c.511G>T (p.Ala171Ser)	GDF9 (A83S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487732	NM_005260.7(GDF9):c.479A>G (p.Tyr160Cys)	GDF9 (Y72C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099272	NM_005260.7(GDF9):c.454C>T (p.His152Tyr)	GDF9 (H152Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205897	NM_005260.7(GDF9):c.448G>A (p.Val150Ile)	GDF9 (V62I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232502	NM_005260.7(GDF9):c.447C>T (p.Thr149=)	GDF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330141	NM_005260.7(GDF9):c.437G>A (p.Arg146His)	GDF9 (R146H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655699	NM_005260.7(GDF9):c.421C>T (p.Leu141=)	GDF9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1232056	NM_005260.7(GDF9):c.398-39G>C	GDF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2250090	NM_005260.7(GDF9):c.377C>T (p.Ala126Val)	GDF9 (A126V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206023	NM_005260.7(GDF9):c.356C>T (p.Pro119Leu)	GDF9 (P31L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308176	NM_005260.7(GDF9):c.323G>A (p.Ser108Asn)	GDF9 (S108N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042894	NM_005260.7(GDF9):c.205C>T (p.Leu69=)	GDF9	Single nucleotide variant (5 prime UTR variant +2 more)	GDF9-related disorder	GLikely benign
Select item 3099271	NM_005260.7(GDF9):c.190G>A (p.Ala64Thr)	GDF9 (A64T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229856	NM_005260.7(GDF9):c.176C>T (p.Ala59Val)	GDF9 (A59V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1251291	NM_005260.7(GDF9):c.169G>T (p.Asp57Tyr)	GDF9 (D57Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2388025	NM_005260.7(GDF9):c.125C>T (p.Ser42Phe)	GDF9 (S42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099270	NM_005260.7(GDF9):c.109A>G (p.Ser37Gly)	GDF9 (S37G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281152	NM_005260.7(GDF9):c.98A>G (p.Gln33Arg)	GDF9 (Q33R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376003	NM_005260.7(GDF9):c.85G>A (p.Gly29Arg)	GDF9 (G29R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3281156	NM_005260.7(GDF9):c.74C>T (p.Ser25Phe)	GDF9 (S25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281155	NM_005260.7(GDF9):c.73T>G (p.Ser25Ala)	GDF9 (S25A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213173	NM_005260.7(GDF9):c.7C>T (p.Arg3Cys)	GDF9 (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 380273	NM_005260.7(GDF9):c.-32A>G	GDF9	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1293233	NM_005260.7(GDF9):c.-103C>A	GDF9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 635953	NM_005260.7(GDF9):c.-616_-142dup	GDF9	Duplication (5 prime UTR variant +1 more)	Premature ovarian failure	GUncertain significance
Select item 676789	NM_014402.4(UQCRQ):c.-139T>C	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240834	NC_000005.10:g.132866569A>G	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1340293	GRCh37/hg19 5q31.1(chr5:132181132-132605222)x3	AFF4, FSTL4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 76