ClinVar for Gene (Select 154197) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215909	NM_001271862.2(PNLDC1):c.775G>A (p.Ala259Thr)	PNLDC1 (A248T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215907	NM_001271862.2(PNLDC1):c.499G>A (p.Glu167Lys)	PNLDC1 (E167K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215906	NM_001271862.2(PNLDC1):c.462C>T (p.Ser154=)	PNLDC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3215905	NM_001271862.2(PNLDC1):c.429C>G (p.His143Gln)	PNLDC1 (H143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215904	NM_001271862.2(PNLDC1):c.255A>G (p.Ile85Met)	PNLDC1 (I85M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215903	NM_001271862.2(PNLDC1):c.1516G>A (p.Val506Ile)	PNLDC1 (V506I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215902	NM_001271862.2(PNLDC1):c.1513A>G (p.Asn505Asp)	PNLDC1 (N505D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3065442	NM_001271862.2(PNLDC1):c.1257+2T>C	PNLDC1	Single nucleotide variant (splice donor variant)	Spermatogenic failure 57	GLikely pathogenic
Select item 2620728	NM_001271862.2(PNLDC1):c.908A>T (p.Asp303Val)	PNLDC1 (D292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617124	NM_001271862.2(PNLDC1):c.402T>G (p.Asn134Lys)	PNLDC1 (N123K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602335	NM_001271862.2(PNLDC1):c.121C>T (p.Pro41Ser)	PNLDC1 (P30S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598997	NM_001271862.2(PNLDC1):c.290C>T (p.Thr97Met)	PNLDC1 (T97M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590728	NM_001271862.2(PNLDC1):c.1040C>T (p.Ala347Val)	PNLDC1 (A336V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581152	NM_001271862.2(PNLDC1):c.1069_1070delinsT (p.Lys357fs)	PNLDC1 (K346fs +1 more)	Indel (frameshift variant)	not provided	Gnot provided
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	AFDN, AGPAT4 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2556645	NM_001271862.2(PNLDC1):c.523G>A (p.Ala175Thr)	PNLDC1 (A164T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543762	NM_001271862.2(PNLDC1):c.517G>C (p.Glu173Gln)	PNLDC1 (E162Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526426	NM_001271862.2(PNLDC1):c.230T>C (p.Ile77Thr)	PNLDC1 (I66T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520287	NM_001271862.2(PNLDC1):c.880A>T (p.Ile294Phe)	PNLDC1 (I283F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491566	NM_001271862.2(PNLDC1):c.701G>A (p.Arg234Gln)	PNLDC1 (R234Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464829	NM_001271862.2(PNLDC1):c.401A>G (p.Asn134Ser)	PNLDC1 (N123S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454308	NM_001271862.2(PNLDC1):c.1537T>A (p.Cys513Ser)	PNLDC1 (C513S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2381175	NM_001271862.2(PNLDC1):c.879T>A (p.Asn293Lys)	PNLDC1 (N282K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292020	NM_001271862.2(PNLDC1):c.1172C>T (p.Pro391Leu)	PNLDC1 (P380L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248020	NM_001271862.2(PNLDC1):c.1070A>C (p.Lys357Thr)	PNLDC1 (K357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225660	NM_001271862.2(PNLDC1):c.1087G>A (p.Ala363Thr)	PNLDC1 (A352T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219793	NM_001271862.2(PNLDC1):c.640G>C (p.Val214Leu)	PNLDC1 (V214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879677	NM_001271862.2(PNLDC1):c.77-33C>G	PNLDC1 (T4S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1343825	NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly)	PNLDC1 (R47G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 57	GPathogenic
Select item 1343778	NM_001271862.2(PNLDC1):c.1174G>A (p.Glu392Lys)	PNLDC1 (E381K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343413	NM_001271862.2(PNLDC1):c.1459C>T (p.Arg487Trp)	PNLDC1 (R476W +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	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 1184273	NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr)	PNLDC1 (M259T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 57	GPathogenic
Select item 1184272	NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs)	PNLDC1 (L35fs +1 more)	Duplication (frameshift variant)	Spermatogenic failure 57	GPathogenic
Select item 1184264	NM_001271862.2(PNLDC1):c.640-2A>T	PNLDC1	Single nucleotide variant (splice acceptor variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184263	NM_001271862.2(PNLDC1):c.[136dup;809T>C]	PNLDC1 (L35fs +3 more)	Duplication (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184262	NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser)	PNLDC1 (P84S +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184261	NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter)	PNLDC1 (R452* +1 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 979580	GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3	PNLDC1, ACAT2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 721294	NM_001271862.2(PNLDC1):c.1041G>A (p.Ala347=)	PNLDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 686074	GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1	ACAT2, MRPL18 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	LOC129997603, LOC129997604 +115 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 61