Related gene-specific medical variations for Gene (Select 388341) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291757	NM_001113567.3(LRRC75A):c.722G>A (p.Arg241Gln)	LRRC75A, SNHG29 (R241Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120948	NM_001113567.3(LRRC75A):c.979G>A (p.Ala327Thr)	LRRC75A, SNHG29 (A327T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120947	NM_001113567.3(LRRC75A):c.757A>G (p.Ile253Val)	LRRC75A, SNHG29 (I253V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120946	NM_001113567.3(LRRC75A):c.729C>A (p.Thr243=)	LRRC75A, SNHG29 (P205T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3120945	NM_001113567.3(LRRC75A):c.687G>A (p.Leu229=)	LRRC75A, SNHG29 (A191T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3120944	NM_001113567.3(LRRC75A):c.413G>A (p.Arg138Gln)	LRRC75A, SNHG29 (R138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120943	NM_001113567.3(LRRC75A):c.379G>A (p.Gly127Ser)	LRRC75A, SNHG29 (G127S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120942	NM_001113567.3(LRRC75A):c.152A>G (p.Tyr51Cys)	LOC130060336, LRRC75A (Y51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647507	NM_001113567.3(LRRC75A):c.330C>T (p.His110=)	LRRC75A, SNHG29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551793	NM_001113567.3(LRRC75A):c.937G>A (p.Glu313Lys)	LRRC75A, SNHG29 (E313K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544803	NM_001113567.3(LRRC75A):c.558C>T (p.Thr186=)	LRRC75A, SNHG29 (L148F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2534257	NM_001113567.3(LRRC75A):c.142A>C (p.Met48Leu)	LOC130060336, LRRC75A (M48L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524543	NM_001113567.3(LRRC75A):c.305G>A (p.Arg102Gln)	LRRC75A, SNHG29 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514925	NM_001113567.3(LRRC75A):c.394G>A (p.Ala132Thr)	SNHG29, LRRC75A (A132T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511280	NM_001113567.3(LRRC75A):c.521C>A (p.Pro174Gln)	LRRC75A, SNHG29 (P174Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470224	NM_001113567.3(LRRC75A):c.857G>A (p.Arg286His)	LRRC75A, SNHG29 (R286H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463428	NM_001113567.3(LRRC75A):c.361C>T (p.His121Tyr)	LRRC75A, SNHG29 (H121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346727	NM_001113567.3(LRRC75A):c.460C>T (p.Arg154Trp)	LRRC75A, SNHG29 (R154W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334770	NM_001113567.3(LRRC75A):c.523G>A (p.Asp175Asn)	LRRC75A, SNHG29 (D175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262682	NM_001113567.3(LRRC75A):c.20A>T (p.Lys7Met)	LOC130060337, LRRC75A (K7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262681	NM_001113567.3(LRRC75A):c.16A>C (p.Thr6Pro)	LOC130060337, LRRC75A (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262680	NM_001113567.3(LRRC75A):c.14A>T (p.Gln5Leu)	LOC130060337, LRRC75A (Q5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242651	NM_001113567.3(LRRC75A):c.563G>A (p.Arg188Gln)	LRRC75A, SNHG29 (R188Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788905	NM_001113567.3(LRRC75A):c.692G>A (p.Arg231His)	LRRC75A, SNHG29 (R231H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Links from Gene

Items: 24