ClinVar for MedGen (Select 68568) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690174	NM_001177949.2(SYCP3):c.484C>T (p.Gln162Ter)	SYCP3 (Q162*)	Single nucleotide variant (nonsense)	Spermatogenic failure 4	GUncertain significance
Select item 1332898	NM_001017975.6(HFM1):c.[2487_2491del;3490C>T]	HFM1 (K829fs +1 more)	Microsatellite (frameshift variant +2 more)	Spermatogenic failure 4	GPathogenic
Select item 1332897	NM_001017975.6(HFM1):c.[2562_2563del;4126del]	HFM1 (E856fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332896	NM_001017975.6(HFM1):c.1472T>C (p.Leu491Pro)	HFM1 (L491P)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332895	NM_001017975.6(HFM1):c.1355G>A (p.Arg452Gln)	HFM1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 883344	NM_020244.3(CHPT1):c.1177-217G>C	CHPT1, SYCP3	Single nucleotide variant (3 prime UTR variant +1 more)	Spermatogenic failure 4	GUncertain significance
Select item 882344	NM_001177949.2(SYCP3):c.-106A>G	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GBenign
Select item 882343	NM_001177949.2(SYCP3):c.-74T>C	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GUncertain significance
Select item 880982	NM_001177949.2(SYCP3):c.-53C>G	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GBenign
Select item 880981	NM_001177949.2(SYCP3):c.28A>T (p.Arg10Trp)	SYCP3 (R10W)	Single nucleotide variant (missense variant)	Spermatogenic failure 4	GUncertain significance
Select item 880980	NM_001177949.2(SYCP3):c.59A>G (p.Gln20Arg)	SYCP3 (Q20R)	Single nucleotide variant (missense variant)	Spermatogenic failure 4	GBenign
Select item 880979	NM_001177949.2(SYCP3):c.80T>C (p.Phe27Ser)	SYCP3 (F27S)	Single nucleotide variant (missense variant)	Spermatogenic failure 4	GLikely benign
Select item 632179	NM_001177949.2(SYCP3):c.524_527del (p.Ile175fs)	SYCP3 (I175fs)	Deletion (frameshift variant)	Spermatogenic failure 4	GUncertain significance
Select item 306766	NM_001177949.2(SYCP3):c.-122T>A	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GBenign
Select item 306765	NM_001177949.2(SYCP3):c.-64C>T	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GUncertain significance
Select item 306764	NM_001177949.2(SYCP3):c.435A>G (p.Glu145=)	SYCP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 306762	NM_001177949.2(SYCP3):c.666A>G (p.Gln222=)	CHPT1, SYCP3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 306761	NM_020244.3(CHPT1):c.1177-157T>C	CHPT1, SYCP3	Single nucleotide variant (3 prime UTR variant +1 more)	Spermatogenic failure 4	GBenign
Select item 306760	NM_020244.3(CHPT1):c.1177-172C>T	CHPT1, SYCP3	Single nucleotide variant (3 prime UTR variant +1 more)	Spermatogenic failure 4	GUncertain significance
Select item 306759	NM_020244.3(CHPT1):c.1177-179C>T	CHPT1, SYCP3	Single nucleotide variant (3 prime UTR variant +1 more)	Spermatogenic failure 4	GBenign
Select item 5373	NM_001177949.2(SYCP3):c.657T>C (p.Thr219=)	SYCP3	Single nucleotide variant (synonymous variant)	Spermatogenic failure 4	GPathogenic
Select item 5372	NM_001177949.2(SYCP3):c.553-21_553-18del	SYCP3	Deletion (intron variant)	Spermatogenic failure 4	GPathogenic
Select item 5371	NM_001177949.2(SYCP3):c.643del (p.Ile215fs)	SYCP3 (I215fs)	Deletion (frameshift variant)	Spermatogenic failure 4	GPathogenic

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Items: 23