ClinVar for MedGen (Select 18162) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239655	NM_015512.5(DNAH1):c.6692C>T (p.Thr2231Met)	DNAH1 (T2231M)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GLikely pathogenic
Select item 3239654	NM_001372106.1(DNAH10):c.3904C>T (p.Arg1302Ter)	DNAH10 (R1184* +1 more)	Single nucleotide variant (nonsense)	Abnormal sperm morphology +2 more	GPathogenic
Select item 3239653	NM_025145.7(CFAP43):c.3101A>C (p.Lys1034Thr)	CFAP43 (K1034T)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GLikely pathogenic
Select item 3239652	NM_001366900.1(TTC21A):c.3450+2del	TTC21A	Deletion (splice donor variant)	Abnormal sperm morphology +2 more	GPathogenic
Select item 3239651	NM_005316.4(GTF2H1):c.1393T>C (p.Tyr465His)	GTF2H1 (Y465H)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GUncertain significance
Select item 3239650	NM_006341.4(MAD2L2):c.103G>A (p.Glu35Lys)	MAD2L2 (E35K)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GUncertain significance
Select item 3239649	NM_173651.4(FSIP2):c.2689del (p.Ser897fs)	FSIP2, FSIP2-AS1 (S897fs)	Deletion (frameshift variant)	Abnormal sperm morphology +2 more	GPathogenic
Select item 3239648	NM_032018.7(SPRTN):c.1246_1247del (p.Val416fs)	SPRTN (V416fs)	Deletion (3 prime UTR variant +1 more)	Abnormal sperm morphology +2 more	GLikely pathogenic
Select item 3239642	NM_001079872.2(CUL4B):c.648G>C (p.Lys216Asn)	CUL4B (K216N +3 more)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GUncertain significance
Select item 3239641	NM_031907.3(USP26):c.125T>C (p.Phe42Ser)	USP26 (F42S)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GUncertain significance
Select item 3239640	NM_006201.5(CDK16):c.47G>A (p.Arg16Gln)	CDK16 (R16Q +2 more)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GUncertain significance
Select item 3239639	NM_006201.5(CDK16):c.43C>T (p.Leu15Phe)	CDK16 (L15F +2 more)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +2 more	GLikely pathogenic
Select item 3239638	NM_031293.3(PMFBP1):c.361C>T (p.Gln121Ter)	PMFBP1 (Q121*)	Single nucleotide variant (5 prime UTR variant +1 more)	Abnormal sperm morphology +1 more	GPathogenic
Select item 2445465	NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)	LOC108281134, SOX3 (R22G)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 2391262	NM_138435.4(FAM83F):c.671G>A (p.Arg224His)	FAM83F (R224H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1330303	NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp)	PNLDC1 (G237D +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GLikely pathogenic
Select item 1001481	NM_015072.5(TTLL5):c.989T>A (p.Leu330Gln)	TTLL5 (L330Q)	Single nucleotide variant (missense variant)	Oligospermia +3 more	GUncertain significance
Select item 869115	NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)	MSH4 (S754L)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +2 more	GPathogenic/Likely pathogenic
Select item 830043	NM_004798.4(KIF3B):c.1032A>T (p.Pro344=)	KIF3B	Single nucleotide variant (synonymous variant)	Oligospermia	Gassociation
Select item 816940	NM_002536.4(TBC1D25):c.4609C>T	TBC1D25	Single nucleotide variant	Oligospermia	GLikely pathogenic
Select item 374019	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13 (R274*)	Single nucleotide variant (nonsense)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Aphasia +14 more	GUncertain significance
Select item 267893	46;XY;t(20;22)(q13.3;q11.2)		Translocation	Overgrowth +5 more	GUncertain significance

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Items: 23