SYCP3[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
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
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 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 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 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 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 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 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 5373	NM_001177949.2(SYCP3):c.657T>C (p.Thr219=)	SYCP3	Single nucleotide variant (synonymous 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
Select item 3172594	NM_001177949.2(SYCP3):c.598G>A (p.Ala200Thr)	SYCP3 (A200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609225	NM_001177949.2(SYCP3):c.589C>T (p.Leu197Phe)	SYCP3 (L197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527823	NM_001177949.2(SYCP3):c.554G>A (p.Ser185Asn)	SYCP3 (S185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5372	NM_001177949.2(SYCP3):c.553-21_553-18del	SYCP3	Deletion (intron variant)	Spermatogenic failure 4	GPathogenic
Select item 1229163	NM_001177949.2(SYCP3):c.553-230G>T	SYCP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270318	NM_001177949.2(SYCP3):c.552+256C>T	SYCP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 632179	NM_001177949.2(SYCP3):c.524_527del (p.Ile175fs)	SYCP3 (I175fs)	Deletion (frameshift variant)	Spermatogenic failure 4	GUncertain significance
Select item 2517571	NM_001177949.2(SYCP3):c.496A>C (p.Ile166Leu)	SYCP3 (I166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 306763	NM_001177949.2(SYCP3):c.454-13_454-9del	SYCP3	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1235117	NM_001177949.2(SYCP3):c.453+91G>T	SYCP3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1259063	NM_001177949.2(SYCP3):c.354-262A>C	SYCP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2474557	NM_001177949.2(SYCP3):c.291G>C (p.Lys97Asn)	SYCP3 (K97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 869113	NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu)	SYCP3 (I81L)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 1252140	NM_001177949.2(SYCP3):c.134-16_134-15del	SYCP3	Deletion (intron variant)	not provided	GBenign
Select item 1243575	NM_001177949.2(SYCP3):c.134-15del	SYCP3	Deletion (intron variant)	not provided	GBenign
Select item 1286208	NM_001177949.2(SYCP3):c.133+17G>T	SYCP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3172597	NM_001177949.2(SYCP3):c.94A>G (p.Lys32Glu)	SYCP3 (K32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393878	NM_001177949.2(SYCP3):c.91G>A (p.Asp31Asn)	SYCP3 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172596	NM_001177949.2(SYCP3):c.86C>T (p.Thr29Ile)	SYCP3 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 880980	NM_001177949.2(SYCP3):c.59A>G (p.Gln20Arg)	SYCP3 (Q20R)	Single nucleotide variant (missense variant)	Spermatogenic failure 4	GBenign
Select item 2566512	NM_001177949.2(SYCP3):c.32A>T (p.Lys11Ile)	SYCP3 (K11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2387071	NM_001177949.2(SYCP3):c.18A>T (p.Lys6Asn)	SYCP3 (K6N)	Single nucleotide variant (missense variant)	not specified	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 306765	NM_001177949.2(SYCP3):c.-64C>T	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GUncertain significance
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 882344	NM_001177949.2(SYCP3):c.-106A>G	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GBenign
Select item 306766	NM_001177949.2(SYCP3):c.-122T>A	SYCP3	Single nucleotide variant (5 prime UTR variant)	Spermatogenic failure 4	GBenign
Select item 3063248	GRCh37/hg19 12q23.2(chr12:102012266-102738384)x3	CHPT1, DRAM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 815550	GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1	PARPBP, CHPT1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 687657	GRCh37/hg19 12q23.2(chr12:102116591-102607083)x3	CHPT1, DRAM1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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: 52