ClinVar for Gene (Select 285796) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303883	NM_001080379.2(PACRG):c.696C>T (p.Phe232=)	PACRG, PACRG-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3207885	NM_001080379.2(PACRG):c.754G>A (p.Glu252Lys)	PACRG, PACRG-AS1 (E252K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207884	NM_001080379.2(PACRG):c.701G>T (p.Arg234Leu)	PACRG, PACRG-AS1 (R273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207883	NM_001080379.2(PACRG):c.628G>A (p.Gly210Ser)	PACRG, PACRG-AS1 (G210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2507905	NM_001080379.2(PACRG):c.739G>A (p.Val247Met)	PACRG, PACRG-AS1 (V247M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294603	NM_001080379.2(PACRG):c.701G>A (p.Arg234His)	PACRG, PACRG-AS1 (R273H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792063	NM_001080379.2(PACRG):c.771C>T (p.Asn257=)	PACRG, PACRG-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792062	NM_001080379.2(PACRG):c.614-6C>A	PACRG, PACRG-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155701	GRCh38/hg38 6q26(chr6:163203635-163422801)x3	CAHM, DKFZp451B082 +13 more	Copy number gain	See cases	GUncertain significance
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155475	GRCh38/hg38 6q26(chr6:163036436-163493764)x3	CAHM, DKFZp451B082 +17 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 152216	GRCh38/hg38 6q26(chr6:162579229-163529838)x3	CAHM, DKFZp451B082 +20 more	Copy number gain	See cases	GUncertain significance
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148109	GRCh38/hg38 6q26(chr6:163310709-163529838)x1	CAHM, DKFZp451B082 +13 more	Copy number loss	See cases	GBenign
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27