Related gene-specific medical variations for Gene (Select 56994) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615432	NM_001177949.2(SYCP3):c.665A>T (p.Gln222Leu)	CHPT1, SYCP3 (Q222L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395108	NM_001177949.2(SYCP3):c.676A>G (p.Ser226Gly)	CHPT1, SYCP3 (S226G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209193	NM_020244.3(CHPT1):c.25T>G (p.Ser9Ala)	CHPT1, LOC130008551 (S9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 306758	NM_020244.3(CHPT1):c.1177-215_1177-212del	CHPT1, SYCP3	Microsatellite (3 prime UTR variant +1 more)	Spermatogenic Failure	GLikely benign