CHPT1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
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 3144537	NM_020244.3(CHPT1):c.76C>G (p.Leu26Val)	CHPT1 (L26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210599	NM_020244.3(CHPT1):c.91G>C (p.Glu31Gln)	CHPT1 (E31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144534	NM_020244.3(CHPT1):c.127G>C (p.Glu43Gln)	CHPT1 (E43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515434	NM_020244.3(CHPT1):c.257C>G (p.Pro86Arg)	CHPT1 (P86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263662	NM_020244.3(CHPT1):c.281A>G (p.Tyr94Cys)	CHPT1 (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523184	NM_020244.3(CHPT1):c.418A>G (p.Thr140Ala)	CHPT1 (T140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333504	NM_020244.3(CHPT1):c.571G>A (p.Val191Ile)	CHPT1 (V191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362286	NM_020244.3(CHPT1):c.628G>C (p.Ala210Pro)	CHPT1 (A210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373193	NM_020244.3(CHPT1):c.629C>T (p.Ala210Val)	CHPT1 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144535	NM_020244.3(CHPT1):c.676A>T (p.Ile226Phe)	CHPT1 (I226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334754	NM_020244.3(CHPT1):c.682C>G (p.Pro228Ala)	CHPT1 (P228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553022	NM_020244.3(CHPT1):c.795G>T (p.Leu265Phe)	CHPT1 (L265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782716	NM_020244.3(CHPT1):c.1021T>C (p.Phe341Leu)	CHPT1 (F341L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3144532	NM_020244.3(CHPT1):c.1098T>G (p.Phe366Leu)	CHPT1 (F366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486027	NM_020244.3(CHPT1):c.1099A>G (p.Ser367Gly)	CHPT1 (S367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780150	NM_020244.3(CHPT1):c.1146C>T (p.Phe382=)	CHPT1	Single nucleotide variant (synonymous variant)	not provided	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
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 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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36